Human Phenotype Ontology 
Grandparent Node:
expandNeurodevelopmental abnormality (HP:0012759)help
Parent Node:
expandNeurodevelopmental delay (HP:0012758)help
..Starting node
..expandDelayed speech and language development (HP:0000750)help
Term ID: 750
Name: Delayed speech and language development
Synonym: Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Poor speech acquisition; Poor speech development; Speech and language delay; Speech and language difficulties; Speech delay; Speech difficulties
Definition: A degree of language development that is significantly below the norm for a child of a specified age.
Comments:
Reference: HP:0000750
Genes and Diseases:
 
       Child Nodes:
........expandAbsent speech (HP:0001344) help
........expandExpressive language delay (HP:0002474) help
................... HP:0006863 Severe expressive language delay
................... HP:0011345 Moderate expressive language delay
................... HP:0011346 Mild expressive language delay
........expandReceptive language delay (HP:0010863) help
................... HP:0011350 Mild receptive language delay
................... HP:0011351 Moderate receptive language delay
................... HP:0011352 Severe receptive language delay

 Sister Nodes: 
..expandDelayed social development (HP:0012434) help
..expandGlobal developmental delay (HP:0001263) help
..expandMotor delay (HP:0001270) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000750HP:0000750Delayed speech and language development0AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0000750Delayed speech and language development0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0000750Delayed speech and language development0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0000750Delayed speech and language development0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0000750Delayed speech and language development0ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0000750Delayed speech and language development0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0000750Delayed speech and language development0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0000750Delayed speech and language development0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0000750Delayed speech and language development0AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0000750Delayed speech and language development0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0000750Delayed speech and language development0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0000750Delayed speech and language development0AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0000750Delayed speech and language development0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0000750Delayed speech and language development0APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0000750Delayed speech and language development0ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0000750Delayed speech and language development0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0000750Delayed speech and language development0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0000750Delayed speech and language development0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0000750Delayed speech and language development0ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0000750Delayed speech and language development0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0000750Delayed speech and language development0ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0000750Delayed speech and language development0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0000750Delayed speech and language development0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0000750Delayed speech and language development0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0000750Delayed speech and language development0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0000750Delayed speech and language development0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0000750Delayed speech and language development0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0000750Delayed speech and language development0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0000750Delayed speech and language development0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0000750Delayed speech and language development0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0000750Delayed speech and language development0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0000750Delayed speech and language development0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0000750Delayed speech and language development0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0000750Delayed speech and language development0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0000750Delayed speech and language development0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0000750Delayed speech and language development0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0000750Delayed speech and language development0CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0000750Delayed speech and language development0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0000750Delayed speech and language development0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0000750Delayed speech and language development0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0000750Delayed speech and language development0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0000750Delayed speech and language development0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0000750Delayed speech and language development0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0000750Delayed speech and language development0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0000750Delayed speech and language development0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0000750Delayed speech and language development0CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0000750Delayed speech and language development0CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0000750Delayed speech and language development0CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0000750Delayed speech and language development0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0000750Delayed speech and language development0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0000750Delayed speech and language development0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0000750Delayed speech and language development0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0000750Delayed speech and language development0CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0000750Delayed speech and language development0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0000750Delayed speech and language development0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0000750Delayed speech and language development0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0000750Delayed speech and language development0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0000750Delayed speech and language development0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0000750Delayed speech and language development0CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0000750Delayed speech and language development0CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0000750Delayed speech and language development0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0000750Delayed speech and language development0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0000750Delayed speech and language development0DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0000750Delayed speech and language development0DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0000750Delayed speech and language development0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0000750Delayed speech and language development0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0000750Delayed speech and language development0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0000750Delayed speech and language development0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0000750Delayed speech and language development0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0000750Delayed speech and language development0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0000750Delayed speech and language development0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0000750Delayed speech and language development0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0000750Delayed speech and language development0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0000750Delayed speech and language development0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0000750Delayed speech and language development0FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0000750Delayed speech and language development0FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0000750Delayed speech and language development0FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0000750Delayed speech and language development0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0000750Delayed speech and language development0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0000750Delayed speech and language development0FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0000750Delayed speech and language development0FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0000750Delayed speech and language development0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0000750Delayed speech and language development0GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0000750Delayed speech and language development0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0000750Delayed speech and language development0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0000750Delayed speech and language development0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0000750Delayed speech and language development0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0000750Delayed speech and language development0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0000750Delayed speech and language development0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0000750Delayed speech and language development0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0000750Delayed speech and language development0GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0000750Delayed speech and language development0HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0000750Delayed speech and language development0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0000750Delayed speech and language development0HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0000750Delayed speech and language development0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0000750Delayed speech and language development0HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0000750Delayed speech and language development0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0000750Delayed speech and language development0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0000750Delayed speech and language development0HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0000750Delayed speech and language development0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0000750Delayed speech and language development0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0000750Delayed speech and language development0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0000750Delayed speech and language development0ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0000750Delayed speech and language development0KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0000750Delayed speech and language development0KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0000750Delayed speech and language development0KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0000750Delayed speech and language development0KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0000750Delayed speech and language development0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0000750Delayed speech and language development0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0000750Delayed speech and language development0KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0000750Delayed speech and language development0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0000750Delayed speech and language development0KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0000750Delayed speech and language development0KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0000750Delayed speech and language development0L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0000750Delayed speech and language development0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0000750Delayed speech and language development0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0000750Delayed speech and language development0LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0000750Delayed speech and language development0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0000750Delayed speech and language development0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0000750Delayed speech and language development0LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0000750Delayed speech and language development0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0000750Delayed speech and language development0MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0000750Delayed speech and language development0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0000750Delayed speech and language development0MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0000750Delayed speech and language development0MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0000750Delayed speech and language development0MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0000750Delayed speech and language development0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0000750Delayed speech and language development0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0000750Delayed speech and language development0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0000750Delayed speech and language development0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0000750Delayed speech and language development0MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0000750Delayed speech and language development0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0000750Delayed speech and language development0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0000750Delayed speech and language development0MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0000750Delayed speech and language development0MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0000750Delayed speech and language development0NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0000750Delayed speech and language development0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0000750Delayed speech and language development0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0000750Delayed speech and language development0NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0000750Delayed speech and language development0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0000750Delayed speech and language development0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0000750Delayed speech and language development0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0000750Delayed speech and language development0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0000750Delayed speech and language development0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0000750Delayed speech and language development0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0000750Delayed speech and language development0NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0000750Delayed speech and language development0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0000750Delayed speech and language development0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0000750Delayed speech and language development0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0000750Delayed speech and language development0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0000750Delayed speech and language development0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0000750Delayed speech and language development0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0000750Delayed speech and language development0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0000750Delayed speech and language development0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0000750Delayed speech and language development0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0000750Delayed speech and language development0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0000750Delayed speech and language development0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0000750Delayed speech and language development0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0000750Delayed speech and language development0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0000750Delayed speech and language development0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0000750Delayed speech and language development0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0000750Delayed speech and language development0PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0000750Delayed speech and language development0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0000750Delayed speech and language development0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0000750Delayed speech and language development0PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0000750Delayed speech and language development0PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0000750Delayed speech and language development0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0000750Delayed speech and language development0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0000750Delayed speech and language development0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0000750Delayed speech and language development0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0000750Delayed speech and language development0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0000750Delayed speech and language development0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0000750Delayed speech and language development0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0000750Delayed speech and language development0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0000750Delayed speech and language development0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0000750Delayed speech and language development0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0000750Delayed speech and language development0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0000750Delayed speech and language development0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0000750Delayed speech and language development0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0000750Delayed speech and language development0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0000750Delayed speech and language development0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0000750Delayed speech and language development0RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0000750Delayed speech and language development0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0000750Delayed speech and language development0SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0000750Delayed speech and language development0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0000750Delayed speech and language development0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0000750Delayed speech and language development0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0000750Delayed speech and language development0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0000750Delayed speech and language development0SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0000750Delayed speech and language development0SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0000750Delayed speech and language development0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0000750Delayed speech and language development0SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0000750Delayed speech and language development0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0000750Delayed speech and language development0SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0000750Delayed speech and language development0SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0000750Delayed speech and language development0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0000750Delayed speech and language development0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0000750Delayed speech and language development0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0000750Delayed speech and language development0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0000750Delayed speech and language development0SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0000750Delayed speech and language development0SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0000750Delayed speech and language development0STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0000750Delayed speech and language development0STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0000750Delayed speech and language development0SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0000750Delayed speech and language development0SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0000750Delayed speech and language development0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0000750Delayed speech and language development0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0000750Delayed speech and language development0TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0000750Delayed speech and language development0TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0000750Delayed speech and language development0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0000750Delayed speech and language development0THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0000750Delayed speech and language development0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0000750Delayed speech and language development0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0000750Delayed speech and language development0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0000750Delayed speech and language development0TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0000750Delayed speech and language development0TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0000750Delayed speech and language development0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0000750Delayed speech and language development0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0000750Delayed speech and language development0TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0000750Delayed speech and language development0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0000750Delayed speech and language development0TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0000750Delayed speech and language development0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0000750Delayed speech and language development0TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0000750Delayed speech and language development0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0000750Delayed speech and language development0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0000750Delayed speech and language development0UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0000750Delayed speech and language development0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0000750Delayed speech and language development0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0000750Delayed speech and language development0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0000750Delayed speech and language development0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0000750Delayed speech and language development0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0000750Delayed speech and language development0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0000750Delayed speech and language development0YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0000750Delayed speech and language development0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0000750Delayed speech and language development0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0000750Delayed speech and language development0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0000750Delayed speech and language development0ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0002474Expressive language delay1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0010863Receptive language delay1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0001344Absent speech1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0002474Expressive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0010863Receptive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0001344Absent speech1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0002474Expressive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0010863Receptive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0001344Absent speech1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0001344Absent speech1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0002474Expressive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0010863Receptive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0001344Absent speech1ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0002474Expressive language delay1ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0010863Receptive language delay1ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0010863Receptive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0002474Expressive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0001344Absent speech1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0002474Expressive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0010863Receptive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0001344Absent speech1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0002474Expressive language delay1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0010863Receptive language delay1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0001344Absent speech1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0002474Expressive language delay1AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0010863Receptive language delay1AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0001344Absent speech1AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0002474Expressive language delay1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0010863Receptive language delay1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0001344Absent speech1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0002474Expressive language delay1AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0010863Receptive language delay1AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0001344Absent speech1AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0010863Receptive language delay1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0002474Expressive language delay1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0001344Absent speech1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0010863Receptive language delay1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0002474Expressive language delay1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0001344Absent speech1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0001344Absent speech1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0002474Expressive language delay1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0010863Receptive language delay1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0002474Expressive language delay1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0010863Receptive language delay1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0001344Absent speech1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0001344Absent speech1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0002474Expressive language delay1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0010863Receptive language delay1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0002474Expressive language delay1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0010863Receptive language delay1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0001344Absent speech1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0002474Expressive language delay1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0010863Receptive language delay1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0001344Absent speech1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0002474Expressive language delay1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0010863Receptive language delay1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0001344Absent speech1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0002474Expressive language delay1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0010863Receptive language delay1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0001344Absent speech1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0010863Receptive language delay1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0002474Expressive language delay1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0001344Absent speech1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0002474Expressive language delay1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0010863Receptive language delay1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0001344Absent speech1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0001344Absent speech1ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0002474Expressive language delay1ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0010863Receptive language delay1ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0002474Expressive language delay1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0010863Receptive language delay1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0001344Absent speech1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0002474Expressive language delay1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0010863Receptive language delay1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0001344Absent speech1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0001344Absent speech1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0010863Receptive language delay1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0002474Expressive language delay1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0002474Expressive language delay1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0010863Receptive language delay1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0001344Absent speech1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0002474Expressive language delay1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0010863Receptive language delay1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0001344Absent speech1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0002474Expressive language delay1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0010863Receptive language delay1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0002474Expressive language delay1ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0010863Receptive language delay1ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0001344Absent speech1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0001344Absent speech1ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0002474Expressive language delay1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0010863Receptive language delay1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0001344Absent speech1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0001344Absent speech1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0001344Absent speech1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0010863Receptive language delay1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0002474Expressive language delay1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0010863Receptive language delay1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0002474Expressive language delay1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0002474Expressive language delay1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0010863Receptive language delay1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0001344Absent speech1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0002474Expressive language delay1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0010863Receptive language delay1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0001344Absent speech1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0001344Absent speech1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0002474Expressive language delay1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0002474Expressive language delay1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0010863Receptive language delay1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0010863Receptive language delay1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0001344Absent speech1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0001344Absent speech1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0002474Expressive language delay1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0010863Receptive language delay1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0002474Expressive language delay1AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0010863Receptive language delay1AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0001344Absent speech1AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0002474Expressive language delay1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0010863Receptive language delay1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0001344Absent speech1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0001344Absent speech1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0010863Receptive language delay1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0002474Expressive language delay1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0010863Receptive language delay1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0002474Expressive language delay1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0001344Absent speech1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0002474Expressive language delay1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0010863Receptive language delay1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0001344Absent speech1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0001344Absent speech1BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0002474Expressive language delay1BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0010863Receptive language delay1BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0002474Expressive language delay1BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0010863Receptive language delay1BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0001344Absent speech1BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0010863Receptive language delay1BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0002474Expressive language delay1BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0001344Absent speech1BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0002474Expressive language delay1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0010863Receptive language delay1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0001344Absent speech1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0001344Absent speech1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0002474Expressive language delay1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0010863Receptive language delay1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0002474Expressive language delay1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0010863Receptive language delay1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0001344Absent speech1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0001344Absent speech1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0010863Receptive language delay1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0002474Expressive language delay1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0002474Expressive language delay1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0010863Receptive language delay1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0001344Absent speech1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0002474Expressive language delay1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0010863Receptive language delay1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0001344Absent speech1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0002474Expressive language delay1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0010863Receptive language delay1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0001344Absent speech1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0010863Receptive language delay1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0002474Expressive language delay1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0001344Absent speech1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0010863Receptive language delay1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0002474Expressive language delay1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0001344Absent speech1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0010863Receptive language delay1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0002474Expressive language delay1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0001344Absent speech1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0010863Receptive language delay1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0002474Expressive language delay1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0001344Absent speech1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0002474Expressive language delay1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0010863Receptive language delay1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0001344Absent speech1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0010863Receptive language delay1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0002474Expressive language delay1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0001344Absent speech1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0002474Expressive language delay1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0010863Receptive language delay1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0001344Absent speech1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0002474Expressive language delay1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0010863Receptive language delay1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0001344Absent speech1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0002474Expressive language delay1CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0010863Receptive language delay1CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0001344Absent speech1CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0002474Expressive language delay1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0010863Receptive language delay1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0001344Absent speech1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0002474Expressive language delay1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0010863Receptive language delay1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0001344Absent speech1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0002474Expressive language delay1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0010863Receptive language delay1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0001344Absent speech1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0002474Expressive language delay1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0010863Receptive language delay1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0001344Absent speech1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0001344Absent speech1CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0002474Expressive language delay1CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0010863Receptive language delay1CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0010863Receptive language delay1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0002474Expressive language delay1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0001344Absent speech1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0002474Expressive language delay1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0010863Receptive language delay1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0001344Absent speech1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0002474Expressive language delay1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0010863Receptive language delay1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0001344Absent speech1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0001344Absent speech1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0002474Expressive language delay1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0010863Receptive language delay1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0002474Expressive language delay1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0010863Receptive language delay1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0001344Absent speech1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0002474Expressive language delay1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0010863Receptive language delay1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0001344Absent speech1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0002474Expressive language delay1CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0010863Receptive language delay1CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0001344Absent speech1CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0002474Expressive language delay1CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0010863Receptive language delay1CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0001344Absent speech1CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0010863Receptive language delay1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0002474Expressive language delay1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0001344Absent speech1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0010863Receptive language delay1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0002474Expressive language delay1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0001344Absent speech1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0001344Absent speech1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0002474Expressive language delay1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0010863Receptive language delay1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0010863Receptive language delay1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0002474Expressive language delay1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0001344Absent speech1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0002474Expressive language delay1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0010863Receptive language delay1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0001344Absent speech1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0010863Receptive language delay1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0002474Expressive language delay1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0001344Absent speech1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0001344Absent speech1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0002474Expressive language delay1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0010863Receptive language delay1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0002474Expressive language delay1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0010863Receptive language delay1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0001344Absent speech1DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0002474Expressive language delay1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0010863Receptive language delay1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0001344Absent speech1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0002474Expressive language delay1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0010863Receptive language delay1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0001344Absent speech1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0010863Receptive language delay1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0002474Expressive language delay1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0001344Absent speech1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0002474Expressive language delay1DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0010863Receptive language delay1DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0001344Absent speech1DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0002474Expressive language delay1DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0010863Receptive language delay1DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0001344Absent speech1DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0002474Expressive language delay1DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0010863Receptive language delay1DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0001344Absent speech1DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0001344Absent speech1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0002474Expressive language delay1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0010863Receptive language delay1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0002474Expressive language delay1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0010863Receptive language delay1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0001344Absent speech1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0010863Receptive language delay1DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0002474Expressive language delay1DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0001344Absent speech1DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0002474Expressive language delay1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0010863Receptive language delay1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0001344Absent speech1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0002474Expressive language delay1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0010863Receptive language delay1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0001344Absent speech1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0002474Expressive language delay1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0010863Receptive language delay1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0001344Absent speech1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0002474Expressive language delay1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0010863Receptive language delay1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0001344Absent speech1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0002474Expressive language delay1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0010863Receptive language delay1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0001344Absent speech1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0002474Expressive language delay1EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0010863Receptive language delay1EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0001344Absent speech1EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0002474Expressive language delay1EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0010863Receptive language delay1EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0001344Absent speech1EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0010863Receptive language delay1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0002474Expressive language delay1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0001344Absent speech1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0002474Expressive language delay1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0010863Receptive language delay1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0001344Absent speech1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0002474Expressive language delay1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0010863Receptive language delay1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0001344Absent speech1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0002474Expressive language delay1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0010863Receptive language delay1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0001344Absent speech1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0010863Receptive language delay1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0002474Expressive language delay1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0001344Absent speech1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0010863Receptive language delay1ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0002474Expressive language delay1ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0001344Absent speech1ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0002474Expressive language delay1ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0010863Receptive language delay1ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0001344Absent speech1ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0002474Expressive language delay1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0010863Receptive language delay1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0001344Absent speech1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0002474Expressive language delay1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0010863Receptive language delay1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0001344Absent speech1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0010863Receptive language delay1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0002474Expressive language delay1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0001344Absent speech1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0001344Absent speech1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0002474Expressive language delay1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0010863Receptive language delay1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0010863Receptive language delay1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0002474Expressive language delay1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0001344Absent speech1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0002474Expressive language delay1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0010863Receptive language delay1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0001344Absent speech1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0002474Expressive language delay1FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0010863Receptive language delay1FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0001344Absent speech1FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0002474Expressive language delay1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0010863Receptive language delay1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0001344Absent speech1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0002474Expressive language delay1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0010863Receptive language delay1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0001344Absent speech1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0002474Expressive language delay1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0010863Receptive language delay1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0001344Absent speech1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0002474Expressive language delay1FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0010863Receptive language delay1FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0001344Absent speech1FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0002474Expressive language delay1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0010863Receptive language delay1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0001344Absent speech1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0002474Expressive language delay1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0010863Receptive language delay1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0001344Absent speech1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0002474Expressive language delay1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0010863Receptive language delay1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0001344Absent speech1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0002474Expressive language delay1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0010863Receptive language delay1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0001344Absent speech1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0002474Expressive language delay1GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0010863Receptive language delay1GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0001344Absent speech1GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0001344Absent speech1GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0010863Receptive language delay1GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0002474Expressive language delay1GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0002474Expressive language delay1GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0010863Receptive language delay1GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0001344Absent speech1GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0002474Expressive language delay1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0010863Receptive language delay1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0001344Absent speech1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0002474Expressive language delay1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0010863Receptive language delay1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0001344Absent speech1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0002474Expressive language delay1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0010863Receptive language delay1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0001344Absent speech1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0002474Expressive language delay1GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0010863Receptive language delay1GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0001344Absent speech1GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0001344Absent speech1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0002474Expressive language delay1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0010863Receptive language delay1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0002474Expressive language delay1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0010863Receptive language delay1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0001344Absent speech1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0001344Absent speech1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0002474Expressive language delay1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0010863Receptive language delay1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0002474Expressive language delay1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0010863Receptive language delay1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0001344Absent speech1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0002474Expressive language delay1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0010863Receptive language delay1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0001344Absent speech1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0002474Expressive language delay1HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0010863Receptive language delay1HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0001344Absent speech1HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0001344Absent speech1HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0002474Expressive language delay1HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0010863Receptive language delay1HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0002474Expressive language delay1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0010863Receptive language delay1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0001344Absent speech1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0002474Expressive language delay1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0010863Receptive language delay1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0001344Absent speech1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0010863Receptive language delay1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0002474Expressive language delay1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0001344Absent speech1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0002474Expressive language delay1HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0010863Receptive language delay1HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0001344Absent speech1HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0001344Absent speech1IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0002474Expressive language delay1IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0010863Receptive language delay1IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0010863Receptive language delay1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0002474Expressive language delay1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0001344Absent speech1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0002474Expressive language delay1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0010863Receptive language delay1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0001344Absent speech1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0002474Expressive language delay1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0010863Receptive language delay1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0001344Absent speech1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0002474Expressive language delay1IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0010863Receptive language delay1IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0002474Expressive language delay1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0010863Receptive language delay1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0001344Absent speech1IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0001344Absent speech1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0001344Absent speech1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0002474Expressive language delay1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0010863Receptive language delay1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0002474Expressive language delay1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0010863Receptive language delay1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0001344Absent speech1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0002474Expressive language delay1KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0010863Receptive language delay1KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0001344Absent speech1KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0001344Absent speech1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0002474Expressive language delay1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0010863Receptive language delay1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0002474Expressive language delay1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0010863Receptive language delay1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0001344Absent speech1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0002474Expressive language delay1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0010863Receptive language delay1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0001344Absent speech1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0010863Receptive language delay1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0002474Expressive language delay1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0001344Absent speech1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0002474Expressive language delay1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0010863Receptive language delay1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0001344Absent speech1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0002474Expressive language delay1KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0010863Receptive language delay1KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0001344Absent speech1KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0002474Expressive language delay1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0010863Receptive language delay1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0001344Absent speech1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0002474Expressive language delay1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0010863Receptive language delay1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0001344Absent speech1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0002474Expressive language delay1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0010863Receptive language delay1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0001344Absent speech1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0002474Expressive language delay1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0010863Receptive language delay1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0001344Absent speech1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0002474Expressive language delay1KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0010863Receptive language delay1KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0001344Absent speech1KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0002474Expressive language delay1KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0010863Receptive language delay1KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0001344Absent speech1KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0010863Receptive language delay1L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0002474Expressive language delay1L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0001344Absent speech1L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0010863Receptive language delay1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0002474Expressive language delay1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0001344Absent speech1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0001344Absent speech1LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0010863Receptive language delay1LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0002474Expressive language delay1LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0001344Absent speech1LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0002474Expressive language delay1LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0010863Receptive language delay1LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0002474Expressive language delay1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0010863Receptive language delay1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0001344Absent speech1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0010863Receptive language delay1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0002474Expressive language delay1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0001344Absent speech1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0001344Absent speech1LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0002474Expressive language delay1LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0010863Receptive language delay1LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0002474Expressive language delay1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0010863Receptive language delay1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0001344Absent speech1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0010863Receptive language delay1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0002474Expressive language delay1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0001344Absent speech1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0001344Absent speech1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0010863Receptive language delay1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0002474Expressive language delay1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0002474Expressive language delay1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0010863Receptive language delay1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0001344Absent speech1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0010863Receptive language delay1MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0002474Expressive language delay1MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0001344Absent speech1MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0002474Expressive language delay1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0010863Receptive language delay1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0001344Absent speech1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0002474Expressive language delay1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0010863Receptive language delay1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0001344Absent speech1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0001344Absent speech1MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0002474Expressive language delay1MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0010863Receptive language delay1MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0002474Expressive language delay1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0010863Receptive language delay1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0001344Absent speech1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0002474Expressive language delay1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0010863Receptive language delay1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0001344Absent speech1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0002474Expressive language delay1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0010863Receptive language delay1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0001344Absent speech1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0002474Expressive language delay1MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0010863Receptive language delay1MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0001344Absent speech1MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0002474Expressive language delay1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0010863Receptive language delay1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0001344Absent speech1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0002474Expressive language delay1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0010863Receptive language delay1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0001344Absent speech1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0002474Expressive language delay1MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0010863Receptive language delay1MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0001344Absent speech1MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0002474Expressive language delay1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0010863Receptive language delay1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0001344Absent speech1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0002474Expressive language delay1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0010863Receptive language delay1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0001344Absent speech1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0002474Expressive language delay1MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0010863Receptive language delay1MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0001344Absent speech1MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0001344Absent speech1MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0002474Expressive language delay1MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0010863Receptive language delay1MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0002474Expressive language delay1NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0010863Receptive language delay1NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0001344Absent speech1NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0002474Expressive language delay1NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0010863Receptive language delay1NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0001344Absent speech1NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0002474Expressive language delay1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0010863Receptive language delay1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0001344Absent speech1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0001344Absent speech1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0010863Receptive language delay1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0002474Expressive language delay1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0002474Expressive language delay1NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0010863Receptive language delay1NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0001344Absent speech1NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0010863Receptive language delay1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0002474Expressive language delay1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0001344Absent speech1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0002474Expressive language delay1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0010863Receptive language delay1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0001344Absent speech1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0002474Expressive language delay1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0010863Receptive language delay1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0001344Absent speech1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0010863Receptive language delay1NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0002474Expressive language delay1NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0001344Absent speech1NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0002474Expressive language delay1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0010863Receptive language delay1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0001344Absent speech1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0002474Expressive language delay1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0010863Receptive language delay1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0001344Absent speech1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0002474Expressive language delay1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0010863Receptive language delay1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0001344Absent speech1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0002474Expressive language delay1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0010863Receptive language delay1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0001344Absent speech1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0001344Absent speech1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0002474Expressive language delay1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0010863Receptive language delay1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0001344Absent speech1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0002474Expressive language delay1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0010863Receptive language delay1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0001344Absent speech1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0010863Receptive language delay1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0002474Expressive language delay1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0002474Expressive language delay1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0010863Receptive language delay1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0001344Absent speech1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0010863Receptive language delay1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0002474Expressive language delay1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0001344Absent speech1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0010863Receptive language delay1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0002474Expressive language delay1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0001344Absent speech1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0002474Expressive language delay1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0010863Receptive language delay1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0001344Absent speech1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0002474Expressive language delay1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0010863Receptive language delay1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0001344Absent speech1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0002474Expressive language delay1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0010863Receptive language delay1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0001344Absent speech1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0001344Absent speech1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0002474Expressive language delay1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0010863Receptive language delay1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0002474Expressive language delay1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0010863Receptive language delay1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0001344Absent speech1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0002474Expressive language delay1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0010863Receptive language delay1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0001344Absent speech1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0002474Expressive language delay1PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0010863Receptive language delay1PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0001344Absent speech1PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0002474Expressive language delay1PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0010863Receptive language delay1PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0001344Absent speech1PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0001344Absent speech1PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0002474Expressive language delay1PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0010863Receptive language delay1PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0002474Expressive language delay1PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0010863Receptive language delay1PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0001344Absent speech1PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0001344Absent speech1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0002474Expressive language delay1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0010863Receptive language delay1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0002474Expressive language delay1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0010863Receptive language delay1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0001344Absent speech1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0002474Expressive language delay1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0010863Receptive language delay1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0001344Absent speech1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0001344Absent speech1PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0002474Expressive language delay1PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0010863Receptive language delay1PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0002474Expressive language delay1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0010863Receptive language delay1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0001344Absent speech1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0002474Expressive language delay1PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0010863Receptive language delay1PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0001344Absent speech1PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0002474Expressive language delay1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0010863Receptive language delay1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0001344Absent speech1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0002474Expressive language delay1POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0010863Receptive language delay1POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0001344Absent speech1POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0002474Expressive language delay1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0010863Receptive language delay1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0001344Absent speech1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0010863Receptive language delay1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0002474Expressive language delay1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0001344Absent speech1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0002474Expressive language delay1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0010863Receptive language delay1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0001344Absent speech1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0010863Receptive language delay1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0002474Expressive language delay1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0001344Absent speech1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0001344Absent speech1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0002474Expressive language delay1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0010863Receptive language delay1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0002474Expressive language delay1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0010863Receptive language delay1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0001344Absent speech1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0002474Expressive language delay1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0010863Receptive language delay1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0001344Absent speech1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0001344Absent speech1PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0002474Expressive language delay1PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0010863Receptive language delay1PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0002474Expressive language delay1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0010863Receptive language delay1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0001344Absent speech1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0002474Expressive language delay1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0010863Receptive language delay1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0001344Absent speech1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0002474Expressive language delay1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0010863Receptive language delay1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0001344Absent speech1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0002474Expressive language delay1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0010863Receptive language delay1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0001344Absent speech1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0002474Expressive language delay1PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0010863Receptive language delay1PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0001344Absent speech1PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0002474Expressive language delay1QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0010863Receptive language delay1QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0001344Absent speech1QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0002474Expressive language delay1RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0010863Receptive language delay1RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0001344Absent speech1RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0010863Receptive language delay1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0002474Expressive language delay1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0001344Absent speech1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0002474Expressive language delay1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0010863Receptive language delay1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0001344Absent speech1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0010863Receptive language delay1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0002474Expressive language delay1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0001344Absent speech1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0001344Absent speech1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0010863Receptive language delay1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0002474Expressive language delay1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0010863Receptive language delay1RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0002474Expressive language delay1RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0001344Absent speech1RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0002474Expressive language delay1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0010863Receptive language delay1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0001344Absent speech1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0002474Expressive language delay1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0010863Receptive language delay1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0001344Absent speech1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0002474Expressive language delay1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0010863Receptive language delay1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0001344Absent speech1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0001344Absent speech1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0002474Expressive language delay1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0010863Receptive language delay1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0002474Expressive language delay1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0010863Receptive language delay1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0001344Absent speech1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0001344Absent speech1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0010863Receptive language delay1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0002474Expressive language delay1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0002474Expressive language delay1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0010863Receptive language delay1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0001344Absent speech1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0001344Absent speech1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0010863Receptive language delay1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0002474Expressive language delay1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0002474Expressive language delay1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0010863Receptive language delay1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0001344Absent speech1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0010863Receptive language delay1SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0002474Expressive language delay1SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0001344Absent speech1SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0001344Absent speech1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0002474Expressive language delay1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0010863Receptive language delay1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0001344Absent speech1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0002474Expressive language delay1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0010863Receptive language delay1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0002474Expressive language delay1SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0010863Receptive language delay1SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0001344Absent speech1SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0010863Receptive language delay1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0002474Expressive language delay1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0001344Absent speech1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0001344Absent speech1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0002474Expressive language delay1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0010863Receptive language delay1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0002474Expressive language delay1SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0010863Receptive language delay1SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0001344Absent speech1SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0002474Expressive language delay1SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0010863Receptive language delay1SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0001344Absent speech1SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0002474Expressive language delay1SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0010863Receptive language delay1SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0001344Absent speech1SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0002474Expressive language delay1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0010863Receptive language delay1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0001344Absent speech1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0002474Expressive language delay1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0010863Receptive language delay1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0001344Absent speech1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0010863Receptive language delay1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0002474Expressive language delay1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0001344Absent speech1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0001344Absent speech1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0002474Expressive language delay1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0010863Receptive language delay1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0002474Expressive language delay1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0010863Receptive language delay1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0001344Absent speech1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0002474Expressive language delay1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0010863Receptive language delay1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0001344Absent speech1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0002474Expressive language delay1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0010863Receptive language delay1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0001344Absent speech1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0002474Expressive language delay1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0010863Receptive language delay1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0001344Absent speech1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0010863Receptive language delay1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0002474Expressive language delay1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0001344Absent speech1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0002474Expressive language delay1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0010863Receptive language delay1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0001344Absent speech1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0001344Absent speech1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0002474Expressive language delay1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0010863Receptive language delay1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0002474Expressive language delay1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0010863Receptive language delay1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0001344Absent speech1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0010863Receptive language delay1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0002474Expressive language delay1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0001344Absent speech1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0002474Expressive language delay1SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0010863Receptive language delay1SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0001344Absent speech1SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0002474Expressive language delay1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0010863Receptive language delay1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0001344Absent speech1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0002474Expressive language delay1SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0010863Receptive language delay1SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0001344Absent speech1SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0001344Absent speech1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0002474Expressive language delay1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0010863Receptive language delay1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0010863Receptive language delay1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0002474Expressive language delay1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0001344Absent speech1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0002474Expressive language delay1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0010863Receptive language delay1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0001344Absent speech1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0002474Expressive language delay1SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0010863Receptive language delay1SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0001344Absent speech1SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0010863Receptive language delay1SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0002474Expressive language delay1SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0001344Absent speech1SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0001344Absent speech1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0002474Expressive language delay1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0010863Receptive language delay1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0002474Expressive language delay1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0010863Receptive language delay1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0001344Absent speech1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0002474Expressive language delay1STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0010863Receptive language delay1STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0001344Absent speech1STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0001344Absent speech1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0002474Expressive language delay1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0010863Receptive language delay1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0002474Expressive language delay1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0010863Receptive language delay1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0001344Absent speech1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0001344Absent speech1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0002474Expressive language delay1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0010863Receptive language delay1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0002474Expressive language delay1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0010863Receptive language delay1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0001344Absent speech1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0002474Expressive language delay1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0010863Receptive language delay1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0001344Absent speech1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0002474Expressive language delay1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0010863Receptive language delay1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0001344Absent speech1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0002474Expressive language delay1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0010863Receptive language delay1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0001344Absent speech1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0002474Expressive language delay1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0010863Receptive language delay1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0001344Absent speech1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0001344Absent speech1TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0002474Expressive language delay1TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0010863Receptive language delay1TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0010863Receptive language delay1TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0002474Expressive language delay1TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0001344Absent speech1TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0002474Expressive language delay1TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0010863Receptive language delay1TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0001344Absent speech1TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0001344Absent speech1TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0002474Expressive language delay1TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0010863Receptive language delay1TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0002474Expressive language delay1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0010863Receptive language delay1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0001344Absent speech1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0002474Expressive language delay1THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0010863Receptive language delay1THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0001344Absent speech1THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0002474Expressive language delay1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0010863Receptive language delay1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0001344Absent speech1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0002474Expressive language delay1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0010863Receptive language delay1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0001344Absent speech1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0002474Expressive language delay1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0010863Receptive language delay1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0001344Absent speech1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0002474Expressive language delay1TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0010863Receptive language delay1TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0001344Absent speech1TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0002474Expressive language delay1TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0010863Receptive language delay1TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0001344Absent speech1TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0002474Expressive language delay1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0010863Receptive language delay1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0001344Absent speech1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0002474Expressive language delay1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0010863Receptive language delay1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0001344Absent speech1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0002474Expressive language delay1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0010863Receptive language delay1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0001344Absent speech1TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0002474Expressive language delay1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0010863Receptive language delay1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0001344Absent speech1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0001344Absent speech1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0002474Expressive language delay1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0010863Receptive language delay1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0002474Expressive language delay1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0010863Receptive language delay1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0001344Absent speech1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0002474Expressive language delay1TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0010863Receptive language delay1TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0001344Absent speech1TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0010863Receptive language delay1TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0002474Expressive language delay1TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0001344Absent speech1TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0010863Receptive language delay1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0002474Expressive language delay1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0001344Absent speech1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0001344Absent speech1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0002474Expressive language delay1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0010863Receptive language delay1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0002474Expressive language delay1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0010863Receptive language delay1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0001344Absent speech1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0002474Expressive language delay1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0010863Receptive language delay1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0001344Absent speech1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0002474Expressive language delay1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0010863Receptive language delay1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0001344Absent speech1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0002474Expressive language delay1TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0010863Receptive language delay1TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0001344Absent speech1TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0010863Receptive language delay1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0002474Expressive language delay1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0001344Absent speech1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0010863Receptive language delay1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0002474Expressive language delay1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0001344Absent speech1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0001344Absent speech1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0010863Receptive language delay1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0002474Expressive language delay1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0002474Expressive language delay1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0010863Receptive language delay1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0001344Absent speech1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0001344Absent speech1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0002474Expressive language delay1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0010863Receptive language delay1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0010863Receptive language delay1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0002474Expressive language delay1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0001344Absent speech1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0002474Expressive language delay1VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0010863Receptive language delay1VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0001344Absent speech1VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0010863Receptive language delay1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0002474Expressive language delay1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0001344Absent speech1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0001344Absent speech1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0002474Expressive language delay1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0010863Receptive language delay1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0010863Receptive language delay1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0002474Expressive language delay1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0001344Absent speech1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0010863Receptive language delay1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0002474Expressive language delay1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0001344Absent speech1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0001344Absent speech1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0001344Absent speech1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0002474Expressive language delay1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0002474Expressive language delay1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0010863Receptive language delay1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0010863Receptive language delay1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0002474Expressive language delay1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0010863Receptive language delay1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0001344Absent speech1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0010863Receptive language delay1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0002474Expressive language delay1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0001344Absent speech1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0010863Receptive language delay1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0002474Expressive language delay1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0001344Absent speech1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0002474Expressive language delay1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0010863Receptive language delay1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0001344Absent speech1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0002474Expressive language delay1ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0010863Receptive language delay1ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0001344Absent speech1ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0002474Expressive language delay1ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0010863Receptive language delay1ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0001344Absent speech1ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0011346Mild expressive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0011350Mild receptive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0011352Severe receptive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0006863Severe expressive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0011351Moderate receptive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0011345Moderate expressive language delay2AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0006863Severe expressive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0011352Severe receptive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0011345Moderate expressive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0011351Moderate receptive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0011346Mild expressive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0011350Mild receptive language delay2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0000750HP:0006863Severe expressive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0011352Severe receptive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0011345Moderate expressive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0011351Moderate receptive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0011346Mild expressive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0011350Mild receptive language delay2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0000750HP:0006863Severe expressive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011352Severe receptive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011345Moderate expressive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011351Moderate receptive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011346Mild expressive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011350Mild receptive language delay2ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM1153120601641
HP:0000750HP:0011352Severe receptive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0006863Severe expressive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0011351Moderate receptive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0011345Moderate expressive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0011346Mild expressive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0011350Mild receptive language delay2ADAR CL E G H103225154ORPHA11122225146920
HP:0000750HP:0011345Moderate expressive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0011351Moderate receptive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0011346Mild expressive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0011350Mild receptive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0006863Severe expressive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0011352Severe receptive language delay2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM1137257102750
HP:0000750HP:0006863Severe expressive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011352Severe receptive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011345Moderate expressive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011351Moderate receptive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011346Mild expressive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011350Mild receptive language delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0000750HP:0011345Moderate expressive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0011351Moderate receptive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0011346Mild expressive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0011350Mild receptive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0006863Severe expressive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0011352Severe receptive language delay2AFF2 CL E G H2334309548FRAXE309548C0751157OMIM14443776300806
HP:0000750HP:0011345Moderate expressive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0011351Moderate receptive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0011346Mild expressive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0011350Mild receptive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0006863Severe expressive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0011352Severe receptive language delay2AGA CL E G H17593ORPHA1509318613228
HP:0000750HP:0011351Moderate receptive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0011345Moderate expressive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0011350Mild receptive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0011346Mild expressive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0011352Severe receptive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0006863Severe expressive language delay2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0000750HP:0011346Mild expressive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0011350Mild receptive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0006863Severe expressive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0011352Severe receptive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0011345Moderate expressive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0011351Moderate receptive language delay2AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0000750HP:0006863Severe expressive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0011352Severe receptive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0011346Mild expressive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0011345Moderate expressive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0011351Moderate receptive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0011350Mild receptive language delay2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0000750HP:0006863Severe expressive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0011352Severe receptive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0011351Moderate receptive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0011345Moderate expressive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0011350Mild receptive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0011346Mild expressive language delay2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0000750HP:0006863Severe expressive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0011352Severe receptive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0011345Moderate expressive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0011351Moderate receptive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0011346Mild expressive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0011350Mild receptive language delay2AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0000750HP:0006863Severe expressive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0011352Severe receptive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0011345Moderate expressive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0011351Moderate receptive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0011346Mild expressive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0011350Mild receptive language delay2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0000750HP:0006863Severe expressive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011352Severe receptive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011345Moderate expressive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011351Moderate receptive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011346Mild expressive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011350Mild receptive language delay2APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0000750HP:0011352Severe receptive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0006863Severe expressive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0011351Moderate receptive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0011345Moderate expressive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0011346Mild expressive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0011350Mild receptive language delay2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0000750HP:0006863Severe expressive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0011352Severe receptive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0011345Moderate expressive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0011351Moderate receptive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0011346Mild expressive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0011350Mild receptive language delay2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM193011110603024
HP:0000750HP:0006863Severe expressive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011352Severe receptive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011345Moderate expressive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011351Moderate receptive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011346Mild expressive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011350Mild receptive language delay2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM131318037609539
HP:0000750HP:0011345Moderate expressive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0011351Moderate receptive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0011346Mild expressive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0011350Mild receptive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0006863Severe expressive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0011352Severe receptive language delay2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM163120730617612
HP:0000750HP:0011350Mild receptive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0011346Mild expressive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0011352Severe receptive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0006863Severe expressive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0011351Moderate receptive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0011345Moderate expressive language delay2ARV1 CL E G H64801442835ORPHA18929561611647
HP:0000750HP:0006863Severe expressive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0011352Severe receptive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0011345Moderate expressive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0011351Moderate receptive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0011346Mild expressive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0011350Mild receptive language delay2ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0000750HP:0006863Severe expressive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0011352Severe receptive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0011345Moderate expressive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0011351Moderate receptive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0011346Mild expressive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0011350Mild receptive language delay2ASPA CL E G H443314918ORPHA1388756608034
HP:0000750HP:0006863Severe expressive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011352Severe receptive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011345Moderate expressive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011351Moderate receptive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011346Mild expressive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011350Mild receptive language delay2ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1159719048605481
HP:0000750HP:0011346Mild expressive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0011350Mild receptive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0006863Severe expressive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0011352Severe receptive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0011345Moderate expressive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0011351Moderate receptive language delay2ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM140823805612991
HP:0000750HP:0006863Severe expressive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011352Severe receptive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011345Moderate expressive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011351Moderate receptive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011350Mild receptive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011346Mild expressive language delay2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0000750HP:0011345Moderate expressive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0011351Moderate receptive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0011346Mild expressive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0011350Mild receptive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0006863Severe expressive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0011352Severe receptive language delay2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM1122837603150
HP:0000750HP:0011345Moderate expressive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0011351Moderate receptive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0011346Mild expressive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0011350Mild receptive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0006863Severe expressive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0011352Severe receptive language delay2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0000750HP:0011345Moderate expressive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0011351Moderate receptive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0011346Mild expressive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0011350Mild receptive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0011346Mild expressive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0011350Mild receptive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0006863Severe expressive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0011352Severe receptive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0006863Severe expressive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0011352Severe receptive language delay2ATP6V0A2 CL E G H235452834ORPHA161018481611716
HP:0000750HP:0011345Moderate expressive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0011351Moderate receptive language delay2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0000750HP:0011345Moderate expressive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0011351Moderate receptive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0011346Mild expressive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0011350Mild receptive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0006863Severe expressive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0011352Severe receptive language delay2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0000750HP:0011352Severe receptive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0006863Severe expressive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0011352Severe receptive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0006863Severe expressive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0011351Moderate receptive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0011345Moderate expressive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0011351Moderate receptive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0011345Moderate expressive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0011350Mild receptive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0011346Mild expressive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0011350Mild receptive language delay2ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0000750HP:0011346Mild expressive language delay2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0000750HP:0006863Severe expressive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011352Severe receptive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011345Moderate expressive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011351Moderate receptive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011346Mild expressive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011350Mild receptive language delay2ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0000750HP:0011346Mild expressive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0011350Mild receptive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0006863Severe expressive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0011352Severe receptive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0011345Moderate expressive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0011351Moderate receptive language delay2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0000750HP:0011350Mild receptive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0006863Severe expressive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0011352Severe receptive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0011346Mild expressive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0011346Mild expressive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0011350Mild receptive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0011345Moderate expressive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0011351Moderate receptive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0011352Severe receptive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0011352Severe receptive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0011346Mild expressive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0011350Mild receptive language delay2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0000750HP:0006863Severe expressive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0006863Severe expressive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0011351Moderate receptive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0011345Moderate expressive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0011345Moderate expressive language delay2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0000750HP:0011351Moderate receptive language delay2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0000750HP:0011345Moderate expressive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0011351Moderate receptive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0011346Mild expressive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0011350Mild receptive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0006863Severe expressive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0011352Severe receptive language delay2AUH CL E G H54967046ORPHA1249890600529
HP:0000750HP:0011345Moderate expressive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0011351Moderate receptive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0011346Mild expressive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0011350Mild receptive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0006863Severe expressive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0011352Severe receptive language delay2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0000750HP:0011352Severe receptive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0006863Severe expressive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0011351Moderate receptive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0011345Moderate expressive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0011350Mild receptive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0011346Mild expressive language delay2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM183514262607270
HP:0000750HP:0011351Moderate receptive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0011345Moderate expressive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0011350Mild receptive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0011346Mild expressive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0011352Severe receptive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0006863Severe expressive language delay2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000750HP:0011345Moderate expressive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0011351Moderate receptive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0011346Mild expressive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0011350Mild receptive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0006863Severe expressive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0011352Severe receptive language delay2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0000750HP:0006863Severe expressive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011352Severe receptive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011345Moderate expressive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011351Moderate receptive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011346Mild expressive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011350Mild receptive language delay2BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM13451077603248
HP:0000750HP:0011346Mild expressive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0011350Mild receptive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0006863Severe expressive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0011352Severe receptive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0011345Moderate expressive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0011351Moderate receptive language delay2BPTF CL E G H2186529962ORPHA15733581601819
HP:0000750HP:0006863Severe expressive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0011352Severe receptive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0011345Moderate expressive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0011351Moderate receptive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0011346Mild expressive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0011350Mild receptive language delay2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM15733581601819
HP:0000750HP:0006863Severe expressive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0011352Severe receptive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0011345Moderate expressive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0011351Moderate receptive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0011346Mild expressive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0011350Mild receptive language delay2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1139551100113705
HP:0000750HP:0006863Severe expressive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011352Severe receptive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011345Moderate expressive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011351Moderate receptive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011346Mild expressive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011350Mild receptive language delay2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM131914255602410
HP:0000750HP:0011345Moderate expressive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0011351Moderate receptive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0011346Mild expressive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0011350Mild receptive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0006863Severe expressive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0011352Severe receptive language delay2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0000750HP:0006863Severe expressive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011352Severe receptive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011351Moderate receptive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011345Moderate expressive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011350Mild receptive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011346Mild expressive language delay2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0000750HP:0011346Mild expressive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0011350Mild receptive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0006863Severe expressive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0011352Severe receptive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0011345Moderate expressive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0011351Moderate receptive language delay2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0000750HP:0006863Severe expressive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0011352Severe receptive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0011345Moderate expressive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0011351Moderate receptive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0011346Mild expressive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0011350Mild receptive language delay2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM16751133300300
HP:0000750HP:0006863Severe expressive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011352Severe receptive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011345Moderate expressive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011351Moderate receptive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011346Mild expressive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011350Mild receptive language delay2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0000750HP:0011351Moderate receptive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0011345Moderate expressive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0011350Mild receptive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0011346Mild expressive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0006863Severe expressive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0011352Severe receptive language delay2C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0011350Mild receptive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0011346Mild expressive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0006863Severe expressive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0011352Severe receptive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0011351Moderate receptive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0011345Moderate expressive language delay2CACNA1A CL E G H773442835ORPHA132481388601011
HP:0000750HP:0011346Mild expressive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0011350Mild receptive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0006863Severe expressive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0011352Severe receptive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0011345Moderate expressive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0011351Moderate receptive language delay2CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0000750HP:0011352Severe receptive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0006863Severe expressive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0011351Moderate receptive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0011345Moderate expressive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0011350Mild receptive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0011346Mild expressive language delay2CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0000750HP:0011345Moderate expressive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0011351Moderate receptive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0011346Mild expressive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0011350Mild receptive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0006863Severe expressive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0011352Severe receptive language delay2CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM113381541165360
HP:0000750HP:0011350Mild receptive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0011346Mild expressive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0006863Severe expressive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0011352Severe receptive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0011345Moderate expressive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0011351Moderate receptive language delay2CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0000750HP:0011352Severe receptive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0006863Severe expressive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0011351Moderate receptive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0011345Moderate expressive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0011350Mild receptive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0011346Mild expressive language delay2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11491770603464
HP:0000750HP:0011346Mild expressive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0011350Mild receptive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0011352Severe receptive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0006863Severe expressive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0011351Moderate receptive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0011345Moderate expressive language delay2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM15681733603309
HP:0000750HP:0011352Severe receptive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0006863Severe expressive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0011345Moderate expressive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0011351Moderate receptive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0011346Mild expressive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0011350Mild receptive language delay2CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM133325815614724
HP:0000750HP:0011345Moderate expressive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0011351Moderate receptive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0011346Mild expressive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0011350Mild receptive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0006863Severe expressive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0011352Severe receptive language delay2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0000750HP:0011345Moderate expressive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0011351Moderate receptive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0011346Mild expressive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0011350Mild receptive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0006863Severe expressive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0011352Severe receptive language delay2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM15021938612395
HP:0000750HP:0011345Moderate expressive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0011351Moderate receptive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0011346Mild expressive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0011350Mild receptive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0006863Severe expressive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0011352Severe receptive language delay2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0000750HP:0011346Mild expressive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0011350Mild receptive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0011352Severe receptive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0006863Severe expressive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0011345Moderate expressive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0011351Moderate receptive language delay2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0000750HP:0006863Severe expressive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011352Severe receptive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011345Moderate expressive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011351Moderate receptive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011346Mild expressive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011350Mild receptive language delay2CLTC CL E G H1213442835ORPHA16452092118955
HP:0000750HP:0011350Mild receptive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0011346Mild expressive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0006863Severe expressive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0011352Severe receptive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0011345Moderate expressive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0011351Moderate receptive language delay2CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0000750HP:0006863Severe expressive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0011352Severe receptive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0011345Moderate expressive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0011351Moderate receptive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0011346Mild expressive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0011350Mild receptive language delay2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0000750HP:0006863Severe expressive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0011352Severe receptive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0011345Moderate expressive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0011351Moderate receptive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0011346Mild expressive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0011350Mild receptive language delay2COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM133918620606976
HP:0000750HP:0006863Severe expressive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0011352Severe receptive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0011345Moderate expressive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0011351Moderate receptive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0011346Mild expressive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0011350Mild receptive language delay2COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM136618621606977
HP:0000750HP:0006863Severe expressive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011352Severe receptive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011345Moderate expressive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011351Moderate receptive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011346Mild expressive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011350Mild receptive language delay2COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0000750HP:0011345Moderate expressive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0011351Moderate receptive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0011346Mild expressive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0011350Mild receptive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0006863Severe expressive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0011352Severe receptive language delay2COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0000750HP:0011352Severe receptive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0006863Severe expressive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0011351Moderate receptive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0011345Moderate expressive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0011350Mild receptive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0011346Mild expressive language delay2CP CL E G H135648818ORPHA18312295117700
HP:0000750HP:0011345Moderate expressive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0011351Moderate receptive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0011346Mild expressive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0011350Mild receptive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0006863Severe expressive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0011352Severe receptive language delay2CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1652340603454
HP:0000750HP:0011345Moderate expressive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0011351Moderate receptive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0011346Mild expressive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0011350Mild receptive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0006863Severe expressive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0011352Severe receptive language delay2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0000750HP:0006863Severe expressive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011352Severe receptive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011345Moderate expressive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011351Moderate receptive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011350Mild receptive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011346Mild expressive language delay2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0000750HP:0011352Severe receptive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0006863Severe expressive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0011351Moderate receptive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0011345Moderate expressive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0011350Mild receptive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0011346Mild expressive language delay2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM12352457115440
HP:0000750HP:0011351Moderate receptive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0011345Moderate expressive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0011350Mild receptive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0011346Mild expressive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0006863Severe expressive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0011352Severe receptive language delay2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM13522494602618
HP:0000750HP:0011352Severe receptive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0006863Severe expressive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0011351Moderate receptive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0011345Moderate expressive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0011346Mild expressive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0011350Mild receptive language delay2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM132710664617170
HP:0000750HP:0011346Mild expressive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0011350Mild receptive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0006863Severe expressive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0011352Severe receptive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0011345Moderate expressive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0011351Moderate receptive language delay2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0000750HP:0006863Severe expressive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011352Severe receptive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011345Moderate expressive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011351Moderate receptive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011346Mild expressive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011350Mild receptive language delay2CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0000750HP:0011351Moderate receptive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0011345Moderate expressive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0011350Mild receptive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0011346Mild expressive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0011352Severe receptive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0006863Severe expressive language delay2DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM16302666128239
HP:0000750HP:0011351Moderate receptive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0011345Moderate expressive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0011346Mild expressive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0011350Mild receptive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0011352Severe receptive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0006863Severe expressive language delay2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0000750HP:0011346Mild expressive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0011350Mild receptive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0006863Severe expressive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0011352Severe receptive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0011345Moderate expressive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0011351Moderate receptive language delay2DHDDS CL E G H79947442835ORPHA143420603608172
HP:0000750HP:0011351Moderate receptive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0011345Moderate expressive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0011350Mild receptive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0011346Mild expressive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0011352Severe receptive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0006863Severe expressive language delay2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0000750HP:0006863Severe expressive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0011352Severe receptive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0011345Moderate expressive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0011351Moderate receptive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0011346Mild expressive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0011350Mild receptive language delay2DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM167423537614984
HP:0000750HP:0006863Severe expressive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011352Severe receptive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011345Moderate expressive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011351Moderate receptive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011346Mild expressive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011350Mild receptive language delay2DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM13042902300189
HP:0000750HP:0011346Mild expressive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0011350Mild receptive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0011352Severe receptive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0006863Severe expressive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0011351Moderate receptive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0011345Moderate expressive language delay2DMD CL E G H175698896ORPHA181842928300377
HP:0000750HP:0006863Severe expressive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011352Severe receptive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011345Moderate expressive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011351Moderate receptive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011346Mild expressive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011350Mild receptive language delay2DNM1 CL E G H1759442835ORPHA17652972602377
HP:0000750HP:0011352Severe receptive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0006863Severe expressive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0011351Moderate receptive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0011345Moderate expressive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0011346Mild expressive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0011350Mild receptive language delay2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM11189964601671
HP:0000750HP:0011350Mild receptive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0011346Mild expressive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0006863Severe expressive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0011352Severe receptive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0011351Moderate receptive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0011345Moderate expressive language delay2DPYD CL E G H1806293948ORPHA14463012612779
HP:0000750HP:0011345Moderate expressive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0011351Moderate receptive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0011346Mild expressive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0011350Mild receptive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0006863Severe expressive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0011352Severe receptive language delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0000750HP:0006863Severe expressive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011352Severe receptive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011345Moderate expressive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011351Moderate receptive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011346Mild expressive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011350Mild receptive language delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0000750HP:0011346Mild expressive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0011350Mild receptive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0006863Severe expressive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0011352Severe receptive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0011345Moderate expressive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0011351Moderate receptive language delay2EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0000750HP:0006863Severe expressive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011352Severe receptive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011345Moderate expressive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011351Moderate receptive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011346Mild expressive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011350Mild receptive language delay2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM11293188605984
HP:0000750HP:0011346Mild expressive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0011350Mild receptive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0006863Severe expressive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0011352Severe receptive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0011345Moderate expressive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0011351Moderate receptive language delay2EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0000750HP:0011345Moderate expressive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0011351Moderate receptive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0011346Mild expressive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0011350Mild receptive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0006863Severe expressive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0011352Severe receptive language delay2EFTUD2 CL E G H934379113ORPHA151130858603892
HP:0000750HP:0011345Moderate expressive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0011351Moderate receptive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0011346Mild expressive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0011350Mild receptive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0006863Severe expressive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0011352Severe receptive language delay2EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM151130858603892
HP:0000750HP:0011345Moderate expressive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0011351Moderate receptive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0011350Mild receptive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0011346Mild expressive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0006863Severe expressive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0011352Severe receptive language delay2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1192324650607001
HP:0000750HP:0011345Moderate expressive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0011351Moderate receptive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0011346Mild expressive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0011350Mild receptive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0006863Severe expressive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0011352Severe receptive language delay2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM12083267300161
HP:0000750HP:0011345Moderate expressive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0011351Moderate receptive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0011346Mild expressive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0011350Mild receptive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0006863Severe expressive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0011352Severe receptive language delay2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0000750HP:0011351Moderate receptive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0011345Moderate expressive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0011346Mild expressive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0011350Mild receptive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0011352Severe receptive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0006863Severe expressive language delay2EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM112663373602700
HP:0000750HP:0011352Severe receptive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0006863Severe expressive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0011351Moderate receptive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0011345Moderate expressive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0011350Mild receptive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0011346Mild expressive language delay2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000750HP:0006863Severe expressive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011352Severe receptive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011345Moderate expressive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011351Moderate receptive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011346Mild expressive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011350Mild receptive language delay2ERMARD CL E G H5578075857ORPHA130321056615532
HP:0000750HP:0011346Mild expressive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0011350Mild receptive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0006863Severe expressive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0011352Severe receptive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0011345Moderate expressive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0011351Moderate receptive language delay2ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM130321056615532
HP:0000750HP:0011345Moderate expressive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0011351Moderate receptive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0011346Mild expressive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0011350Mild receptive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0006863Severe expressive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0011352Severe receptive language delay2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM127717097602238
HP:0000750HP:0006863Severe expressive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0011352Severe receptive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0011345Moderate expressive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0011351Moderate receptive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0011346Mild expressive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0011350Mild receptive language delay2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0000750HP:0006863Severe expressive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011352Severe receptive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011351Moderate receptive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011345Moderate expressive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011350Mild receptive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011346Mild expressive language delay2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM176313590607871
HP:0000750HP:0011352Severe receptive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0006863Severe expressive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0011345Moderate expressive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0011351Moderate receptive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0011346Mild expressive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0011350Mild receptive language delay2FGF12 CL E G H2257442835ORPHA12593668601513
HP:0000750HP:0011345Moderate expressive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0011351Moderate receptive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0011350Mild receptive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0011346Mild expressive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0006863Severe expressive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0011352Severe receptive language delay2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM19363688136350
HP:0000750HP:0006863Severe expressive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0011352Severe receptive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0011345Moderate expressive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0011351Moderate receptive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0011346Mild expressive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0011350Mild receptive language delay2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000750HP:0006863Severe expressive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011352Severe receptive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011345Moderate expressive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011351Moderate receptive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011346Mild expressive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011350Mild receptive language delay2FLII CL E G H2314819ORPHA12193750600362
HP:0000750HP:0011345Moderate expressive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0011351Moderate receptive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0011346Mild expressive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0011350Mild receptive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0006863Severe expressive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0011352Severe receptive language delay2FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM130333754300017
HP:0000750HP:0006863Severe expressive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011352Severe receptive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011345Moderate expressive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011351Moderate receptive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011346Mild expressive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011350Mild receptive language delay2FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM17003823605515
HP:0000750HP:0011345Moderate expressive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0011351Moderate receptive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0011346Mild expressive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0011350Mild receptive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0006863Severe expressive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0011352Severe receptive language delay2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0000750HP:0006863Severe expressive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0011352Severe receptive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0011345Moderate expressive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0011351Moderate receptive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0011346Mild expressive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0011350Mild receptive language delay2FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0000750HP:0006863Severe expressive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011352Severe receptive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011345Moderate expressive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011351Moderate receptive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011346Mild expressive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011350Mild receptive language delay2FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM123913254300499
HP:0000750HP:0011346Mild expressive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0011350Mild receptive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0006863Severe expressive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0011352Severe receptive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0011345Moderate expressive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0011351Moderate receptive language delay2GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0000750HP:0006863Severe expressive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011352Severe receptive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011345Moderate expressive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011351Moderate receptive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011346Mild expressive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011350Mild receptive language delay2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0000750HP:0011345Moderate expressive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0011351Moderate receptive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0011346Mild expressive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0011350Mild receptive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0006863Severe expressive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0011352Severe receptive language delay2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0000750HP:0011352Severe receptive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0006863Severe expressive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0011351Moderate receptive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0011345Moderate expressive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0011350Mild receptive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0011346Mild expressive language delay2GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM14434175602360
HP:0000750HP:0006863Severe expressive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011352Severe receptive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011351Moderate receptive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011345Moderate expressive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011350Mild receptive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011346Mild expressive language delay2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11634401604447
HP:0000750HP:0011346Mild expressive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0011350Mild receptive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0006863Severe expressive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0011352Severe receptive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0011345Moderate expressive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0011351Moderate receptive language delay2GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11634401604447
HP:0000750HP:0011345Moderate expressive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0011351Moderate receptive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0011346Mild expressive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0011350Mild receptive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0006863Severe expressive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0011352Severe receptive language delay2GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM126325676607983
HP:0000750HP:0011351Moderate receptive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0011345Moderate expressive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0011350Mild receptive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0011346Mild expressive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0011352Severe receptive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0006863Severe expressive language delay2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0000750HP:0011346Mild expressive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0011350Mild receptive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0006863Severe expressive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0011352Severe receptive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0011345Moderate expressive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0011351Moderate receptive language delay2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0000750HP:0011352Severe receptive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0006863Severe expressive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0011345Moderate expressive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0011351Moderate receptive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0011346Mild expressive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0011350Mild receptive language delay2GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0000750HP:0011352Severe receptive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0006863Severe expressive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0011351Moderate receptive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0011345Moderate expressive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0011346Mild expressive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0011350Mild receptive language delay2GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0000750HP:0011345Moderate expressive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0011351Moderate receptive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0011346Mild expressive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0011350Mild receptive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0006863Severe expressive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0011352Severe receptive language delay2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0000750HP:0006863Severe expressive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011352Severe receptive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011345Moderate expressive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011351Moderate receptive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011346Mild expressive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011350Mild receptive language delay2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0000750HP:0011346Mild expressive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0011350Mild receptive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0006863Severe expressive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0011352Severe receptive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0011345Moderate expressive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0011351Moderate receptive language delay2HCN1 CL E G H348980442835ORPHA17964845602780
HP:0000750HP:0006863Severe expressive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011352Severe receptive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011345Moderate expressive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011351Moderate receptive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011346Mild expressive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011350Mild receptive language delay2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000750HP:0011351Moderate receptive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0011345Moderate expressive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0011346Mild expressive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0011350Mild receptive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0011352Severe receptive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0006863Severe expressive language delay2HMGA2 CL E G H809194063ORPHA1345009600698
HP:0000750HP:0006863Severe expressive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011352Severe receptive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011345Moderate expressive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011351Moderate receptive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011346Mild expressive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011350Mild receptive language delay2HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1535028605238
HP:0000750HP:0011346Mild expressive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0011350Mild receptive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0006863Severe expressive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0011352Severe receptive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0011345Moderate expressive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0011351Moderate receptive language delay2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0000750HP:0011345Moderate expressive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0011351Moderate receptive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0011346Mild expressive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0011350Mild receptive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0006863Severe expressive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0011352Severe receptive language delay2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0000750HP:0006863Severe expressive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011352Severe receptive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011345Moderate expressive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011351Moderate receptive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011350Mild receptive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011346Mild expressive language delay2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0000750HP:0011345Moderate expressive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0011351Moderate receptive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0011346Mild expressive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0011350Mild receptive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0011352Severe receptive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0006863Severe expressive language delay2HUWE1 CL E G H1007585328ORPHA1128530892300697
HP:0000750HP:0006863Severe expressive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0011352Severe receptive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0011345Moderate expressive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0011351Moderate receptive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0011346Mild expressive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0011350Mild receptive language delay2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM1135630391607386
HP:0000750HP:0006863Severe expressive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0011352Severe receptive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0011345Moderate expressive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0011351Moderate receptive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0011346Mild expressive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0011350Mild receptive language delay2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000750HP:0006863Severe expressive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011352Severe receptive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011345Moderate expressive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011351Moderate receptive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011346Mild expressive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011350Mild receptive language delay2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM178221474613037
HP:0000750HP:0011345Moderate expressive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0011351Moderate receptive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0011346Mild expressive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0011350Mild receptive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0006863Severe expressive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0011352Severe receptive language delay2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000750HP:0011351Moderate receptive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0011345Moderate expressive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0011346Mild expressive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0011350Mild receptive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0011350Mild receptive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0011346Mild expressive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0006863Severe expressive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0011352Severe receptive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0011352Severe receptive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0006863Severe expressive language delay2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0000750HP:0011345Moderate expressive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0011351Moderate receptive language delay2IQSEC2 CL E G H23096217377ORPHA1114429059300522
HP:0000750HP:0006863Severe expressive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0011352Severe receptive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0011345Moderate expressive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0011351Moderate receptive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0011346Mild expressive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0011350Mild receptive language delay2ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0000750HP:0006863Severe expressive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011352Severe receptive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011345Moderate expressive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011351Moderate receptive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011346Mild expressive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011350Mild receptive language delay2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1137024565612452
HP:0000750HP:0011345Moderate expressive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0011351Moderate receptive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0011346Mild expressive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0011350Mild receptive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0006863Severe expressive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0011352Severe receptive language delay2KAT6B CL E G H2352285201ORPHA1100317582605880
HP:0000750HP:0011352Severe receptive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0006863Severe expressive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0011351Moderate receptive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0011345Moderate expressive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0011350Mild receptive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0011346Mild expressive language delay2KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0000750HP:0011345Moderate expressive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0011351Moderate receptive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0011346Mild expressive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0011350Mild receptive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0006863Severe expressive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0011352Severe receptive language delay2KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0000750HP:0011346Mild expressive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0011350Mild receptive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0006863Severe expressive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0011352Severe receptive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0011345Moderate expressive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0011351Moderate receptive language delay2KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0000750HP:0006863Severe expressive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011352Severe receptive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011351Moderate receptive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011345Moderate expressive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011350Mild receptive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011346Mild expressive language delay2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0000750HP:0011345Moderate expressive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0011351Moderate receptive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0011346Mild expressive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0011350Mild receptive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0006863Severe expressive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0011352Severe receptive language delay2KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM125418039605393
HP:0000750HP:0006863Severe expressive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011352Severe receptive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011345Moderate expressive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011351Moderate receptive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011346Mild expressive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011350Mild receptive language delay2KDM5C CL E G H824285279ORPHA175611114314690
HP:0000750HP:0011346Mild expressive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0011350Mild receptive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0006863Severe expressive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0011352Severe receptive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0011345Moderate expressive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0011351Moderate receptive language delay2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0000750HP:0011346Mild expressive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0011350Mild receptive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0006863Severe expressive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0011352Severe receptive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0011345Moderate expressive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0011351Moderate receptive language delay2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0000750HP:0011345Moderate expressive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0011351Moderate receptive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0011346Mild expressive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0011350Mild receptive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0006863Severe expressive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0011352Severe receptive language delay2KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM120737132159555
HP:0000750HP:0006863Severe expressive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011352Severe receptive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011345Moderate expressive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011351Moderate receptive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011346Mild expressive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011350Mild receptive language delay2KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM1142513726606833
HP:0000750HP:0011345Moderate expressive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0011351Moderate receptive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0011346Mild expressive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0011350Mild receptive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0011352Severe receptive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0006863Severe expressive language delay2KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM116824283610881
HP:0000750HP:0011345Moderate expressive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0011351Moderate receptive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0011346Mild expressive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0011350Mild receptive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0006863Severe expressive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0011352Severe receptive language delay2KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM138224054609173
HP:0000750HP:0011345Moderate expressive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0011351Moderate receptive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0011346Mild expressive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0011350Mild receptive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0006863Severe expressive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0011352Severe receptive language delay2L1CAM CL E G H38972466ORPHA19686470308840
HP:0000750HP:0011345Moderate expressive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0011351Moderate receptive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0011346Mild expressive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0011350Mild receptive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0006863Severe expressive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0011352Severe receptive language delay2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0000750HP:0006863Severe expressive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0011352Severe receptive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0011351Moderate receptive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0011345Moderate expressive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0011350Mild receptive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0011346Mild expressive language delay2LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM112646481150320
HP:0000750HP:0006863Severe expressive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0011352Severe receptive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0011345Moderate expressive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0011351Moderate receptive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0011346Mild expressive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0011350Mild receptive language delay2LEMD3 CL E G H2359294063ORPHA144128887607844
HP:0000750HP:0006863Severe expressive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011352Severe receptive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011345Moderate expressive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011351Moderate receptive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011346Mild expressive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011350Mild receptive language delay2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM16266601601837
HP:0000750HP:0011345Moderate expressive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0011351Moderate receptive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0011350Mild receptive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0011346Mild expressive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0006863Severe expressive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0011352Severe receptive language delay2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0000750HP:0006863Severe expressive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0011352Severe receptive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0011345Moderate expressive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0011351Moderate receptive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0011346Mild expressive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0011350Mild receptive language delay2LTBP4 CL E G H842598896ORPHA17736717604710
HP:0000750HP:0006863Severe expressive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011352Severe receptive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011345Moderate expressive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011351Moderate receptive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011346Mild expressive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011350Mild receptive language delay2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000750HP:0011350Mild receptive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0011346Mild expressive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0011352Severe receptive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0006863Severe expressive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0011351Moderate receptive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0011345Moderate expressive language delay2MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1736891605789
HP:0000750HP:0011352Severe receptive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0006863Severe expressive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0011351Moderate receptive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0011345Moderate expressive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0011350Mild receptive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0011346Mild expressive language delay2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0000750HP:0006863Severe expressive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011352Severe receptive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011345Moderate expressive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011351Moderate receptive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011346Mild expressive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011350Mild receptive language delay2MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM112456946603294
HP:0000750HP:0011345Moderate expressive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0011351Moderate receptive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0011350Mild receptive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0011346Mild expressive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0006863Severe expressive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0011352Severe receptive language delay2MCTP2 CL E G H557841596ORPHA116525636616297
HP:0000750HP:0006863Severe expressive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011352Severe receptive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011345Moderate expressive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011351Moderate receptive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011346Mild expressive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011350Mild receptive language delay2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0000750HP:0011346Mild expressive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0011350Mild receptive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0006863Severe expressive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0011352Severe receptive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0011345Moderate expressive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0011351Moderate receptive language delay2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0000750HP:0006863Severe expressive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0011352Severe receptive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0011345Moderate expressive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0011351Moderate receptive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0011346Mild expressive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0011350Mild receptive language delay2MEIS2 CL E G H4212261190ORPHA11427001601740
HP:0000750HP:0006863Severe expressive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011352Severe receptive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011345Moderate expressive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011351Moderate receptive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011346Mild expressive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011350Mild receptive language delay2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0000750HP:0011345Moderate expressive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0011351Moderate receptive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0011346Mild expressive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0011350Mild receptive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0006863Severe expressive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0011352Severe receptive language delay2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000750HP:0006863Severe expressive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011352Severe receptive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011345Moderate expressive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011351Moderate receptive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011346Mild expressive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011350Mild receptive language delay2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0011346Mild expressive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0011350Mild receptive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0006863Severe expressive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0011352Severe receptive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0011345Moderate expressive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0011351Moderate receptive language delay2MSTO1 CL E G H55154502423ORPHA115829678617619
HP:0000750HP:0011352Severe receptive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0006863Severe expressive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0011351Moderate receptive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0011345Moderate expressive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0011346Mild expressive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0011350Mild receptive language delay2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM115829678617619
HP:0000750HP:0011346Mild expressive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0011350Mild receptive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0006863Severe expressive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0011352Severe receptive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0011345Moderate expressive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0011351Moderate receptive language delay2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0000750HP:0011345Moderate expressive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0011351Moderate receptive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0011346Mild expressive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0011350Mild receptive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0006863Severe expressive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0011352Severe receptive language delay2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM124329666611766
HP:0000750HP:0006863Severe expressive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011352Severe receptive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011345Moderate expressive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011351Moderate receptive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011346Mild expressive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011350Mild receptive language delay2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0000750HP:0011352Severe receptive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0006863Severe expressive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0011351Moderate receptive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0011345Moderate expressive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0011350Mild receptive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0011346Mild expressive language delay2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0000750HP:0006863Severe expressive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0011352Severe receptive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0011345Moderate expressive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0011351Moderate receptive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0011346Mild expressive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0011350Mild receptive language delay2MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM11561181608329
HP:0000750HP:0006863Severe expressive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0011352Severe receptive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0011345Moderate expressive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0011351Moderate receptive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0011346Mild expressive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0011350Mild receptive language delay2MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM14787623613084
HP:0000750HP:0006863Severe expressive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011352Severe receptive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011345Moderate expressive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011351Moderate receptive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011346Mild expressive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011350Mild receptive language delay2NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM131730782608000
HP:0000750HP:0011346Mild expressive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0011350Mild receptive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0006863Severe expressive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0011352Severe receptive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0011345Moderate expressive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0011351Moderate receptive language delay2NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM187719082611549
HP:0000750HP:0011345Moderate expressive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0011351Moderate receptive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0011346Mild expressive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0011350Mild receptive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0006863Severe expressive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0011352Severe receptive language delay2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000750HP:0006863Severe expressive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011352Severe receptive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011351Moderate receptive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011345Moderate expressive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011350Mild receptive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011346Mild expressive language delay2NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0000750HP:0011352Severe receptive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0006863Severe expressive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0011351Moderate receptive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0011345Moderate expressive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0011346Mild expressive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0011350Mild receptive language delay2NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1123927765613113
HP:0000750HP:0006863Severe expressive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011352Severe receptive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011345Moderate expressive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011351Moderate receptive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011350Mild receptive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011346Mild expressive language delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM12577782600492
HP:0000750HP:0011345Moderate expressive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0011351Moderate receptive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0011346Mild expressive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0011350Mild receptive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0006863Severe expressive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0011352Severe receptive language delay2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM13487788164005
HP:0000750HP:0011351Moderate receptive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0011345Moderate expressive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0011350Mild receptive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0011346Mild expressive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0011352Severe receptive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0006863Severe expressive language delay2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0000750HP:0006863Severe expressive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011352Severe receptive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011345Moderate expressive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011351Moderate receptive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011346Mild expressive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011350Mild receptive language delay2NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM144414287300427
HP:0000750HP:0011352Severe receptive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0006863Severe expressive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0011351Moderate receptive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0011345Moderate expressive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0011346Mild expressive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0011350Mild receptive language delay2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000750HP:0006863Severe expressive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011352Severe receptive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011345Moderate expressive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011351Moderate receptive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011346Mild expressive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011350Mild receptive language delay2NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM136813398300275
HP:0000750HP:0011345Moderate expressive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0011351Moderate receptive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0011346Mild expressive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0011350Mild receptive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0006863Severe expressive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0011352Severe receptive language delay2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0000750HP:0011346Mild expressive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0011350Mild receptive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0006863Severe expressive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0011352Severe receptive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0011345Moderate expressive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0011351Moderate receptive language delay2NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0000750HP:0006863Severe expressive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011352Severe receptive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011345Moderate expressive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011351Moderate receptive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011346Mild expressive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011350Mild receptive language delay2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM124229914607617
HP:0000750HP:0011352Severe receptive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0006863Severe expressive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0011351Moderate receptive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0011345Moderate expressive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0011350Mild receptive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0011346Mild expressive language delay2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0000750HP:0006863Severe expressive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011352Severe receptive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011345Moderate expressive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011351Moderate receptive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011350Mild receptive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011346Mild expressive language delay2NUS1 CL E G H116150442835ORPHA132621042610463
HP:0000750HP:0011345Moderate expressive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0011351Moderate receptive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0011346Mild expressive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0011350Mild receptive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0006863Severe expressive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0011352Severe receptive language delay2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0000750HP:0011352Severe receptive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0006863Severe expressive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0011351Moderate receptive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0011345Moderate expressive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0011350Mild receptive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0011346Mild expressive language delay2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0000750HP:0006863Severe expressive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011352Severe receptive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011345Moderate expressive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011351Moderate receptive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011346Mild expressive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011350Mild receptive language delay2PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM158830032607492
HP:0000750HP:0011345Moderate expressive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0011351Moderate receptive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0011346Mild expressive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0011350Mild receptive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0006863Severe expressive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0011352Severe receptive language delay2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM185823794610423
HP:0000750HP:0011345Moderate expressive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0011351Moderate receptive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0011346Mild expressive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0011350Mild receptive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0006863Severe expressive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0011352Severe receptive language delay2PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM13288592300142
HP:0000750HP:0011345Moderate expressive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0011351Moderate receptive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0011346Mild expressive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0011350Mild receptive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0006863Severe expressive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0011352Severe receptive language delay2PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM11098632176310
HP:0000750HP:0006863Severe expressive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011352Severe receptive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011345Moderate expressive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011351Moderate receptive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011346Mild expressive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011350Mild receptive language delay2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000750HP:0011345Moderate expressive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0011351Moderate receptive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0011346Mild expressive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0011350Mild receptive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0006863Severe expressive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0011352Severe receptive language delay2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM14758783600129
HP:0000750HP:0011345Moderate expressive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0011351Moderate receptive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0011346Mild expressive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0011350Mild receptive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0006863Severe expressive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0011352Severe receptive language delay2PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0000750HP:0006863Severe expressive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011352Severe receptive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011345Moderate expressive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011351Moderate receptive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011346Mild expressive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011350Mild receptive language delay2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM13468896311800
HP:0000750HP:0011352Severe receptive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0006863Severe expressive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0011351Moderate receptive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0011345Moderate expressive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0011346Mild expressive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0011350Mild receptive language delay2PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM133120672300560
HP:0000750HP:0011352Severe receptive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0006863Severe expressive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0011345Moderate expressive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0011351Moderate receptive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0011346Mild expressive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0011350Mild receptive language delay2PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0000750HP:0011352Severe receptive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0006863Severe expressive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0011351Moderate receptive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0011345Moderate expressive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0011350Mild receptive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0011346Mild expressive language delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM193623215614730
HP:0000750HP:0006863Severe expressive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011352Severe receptive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011345Moderate expressive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011351Moderate receptive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011346Mild expressive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011350Mild receptive language delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0000750HP:0011345Moderate expressive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0011351Moderate receptive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0011346Mild expressive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0011350Mild receptive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0006863Severe expressive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0011352Severe receptive language delay2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM14578979171833
HP:0000750HP:0006863Severe expressive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011352Severe receptive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011345Moderate expressive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011351Moderate receptive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011346Mild expressive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011350Mild receptive language delay2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0000750HP:0011352Severe receptive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0006863Severe expressive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0011345Moderate expressive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0011351Moderate receptive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0011346Mild expressive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0011350Mild receptive language delay2PLAA CL E G H9373521426ORPHA15059043603873
HP:0000750HP:0011345Moderate expressive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0011351Moderate receptive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0011346Mild expressive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0011350Mild receptive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0006863Severe expressive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0011352Severe receptive language delay2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0000750HP:0006863Severe expressive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0011352Severe receptive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0011345Moderate expressive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0011351Moderate receptive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0011346Mild expressive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0011350Mild receptive language delay2PMPCA CL E G H232031170ORPHA120518667613036
HP:0000750HP:0006863Severe expressive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0011352Severe receptive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0011345Moderate expressive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0011351Moderate receptive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0011346Mild expressive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0011350Mild receptive language delay2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0000750HP:0006863Severe expressive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0011352Severe receptive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0011345Moderate expressive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0011351Moderate receptive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0011346Mild expressive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0011350Mild receptive language delay2POMT1 CL E G H1058586812ORPHA19069202607423
HP:0000750HP:0006863Severe expressive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011352Severe receptive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011345Moderate expressive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011351Moderate receptive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011346Mild expressive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011350Mild receptive language delay2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM12309277605100
HP:0000750HP:0011345Moderate expressive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0011351Moderate receptive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0011350Mild receptive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0011346Mild expressive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0006863Severe expressive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0011352Severe receptive language delay2PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM12159282600590
HP:0000750HP:0011346Mild expressive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0011350Mild receptive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0006863Severe expressive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0011352Severe receptive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0011345Moderate expressive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0011351Moderate receptive language delay2PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0000750HP:0011350Mild receptive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0011346Mild expressive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0011352Severe receptive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0006863Severe expressive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0011351Moderate receptive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0011345Moderate expressive language delay2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000750HP:0006863Severe expressive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011352Severe receptive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011345Moderate expressive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011351Moderate receptive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011346Mild expressive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011350Mild receptive language delay2PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM11489407605435
HP:0000750HP:0011345Moderate expressive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0011351Moderate receptive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0011346Mild expressive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0011350Mild receptive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0006863Severe expressive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0011352Severe receptive language delay2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0000750HP:0011346Mild expressive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0011350Mild receptive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0006863Severe expressive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0011352Severe receptive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0011345Moderate expressive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0011351Moderate receptive language delay2PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM121525557610087
HP:0000750HP:0011352Severe receptive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0006863Severe expressive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0011351Moderate receptive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0011345Moderate expressive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0011350Mild receptive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0011346Mild expressive language delay2PSMD12 CL E G H5718529962ORPHA1849557604450
HP:0000750HP:0006863Severe expressive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011352Severe receptive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011345Moderate expressive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011351Moderate receptive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011346Mild expressive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011350Mild receptive language delay2PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1849557604450
HP:0000750HP:0011345Moderate expressive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0011351Moderate receptive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0011346Mild expressive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0011350Mild receptive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0006863Severe expressive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0011352Severe receptive language delay2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0000750HP:0011345Moderate expressive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0011351Moderate receptive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0011346Mild expressive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0011350Mild receptive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0006863Severe expressive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0011352Severe receptive language delay2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000750HP:0011352Severe receptive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0006863Severe expressive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0011351Moderate receptive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0011345Moderate expressive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0011350Mild receptive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0011346Mild expressive language delay2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000750HP:0006863Severe expressive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011352Severe receptive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011345Moderate expressive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011351Moderate receptive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011346Mild expressive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011350Mild receptive language delay2PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM12879721179035
HP:0000750HP:0011345Moderate expressive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0011351Moderate receptive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0011346Mild expressive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0011350Mild receptive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0006863Severe expressive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0011352Severe receptive language delay2QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM112624713617387
HP:0000750HP:0006863Severe expressive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0011352Severe receptive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0011345Moderate expressive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0011351Moderate receptive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0011346Mild expressive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0011350Mild receptive language delay2RAI1 CL E G H10743819ORPHA116089834607642
HP:0000750HP:0006863Severe expressive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0011352Severe receptive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0011345Moderate expressive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0011351Moderate receptive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0011346Mild expressive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0011350Mild receptive language delay2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000750HP:0006863Severe expressive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011352Severe receptive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011345Moderate expressive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011351Moderate receptive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011346Mild expressive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011350Mild receptive language delay2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0000750HP:0011345Moderate expressive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0011351Moderate receptive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0011350Mild receptive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0011346Mild expressive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0006863Severe expressive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0011352Severe receptive language delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0000750HP:0006863Severe expressive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011352Severe receptive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011345Moderate expressive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011351Moderate receptive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011346Mild expressive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011350Mild receptive language delay2RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000750HP:0011352Severe receptive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0006863Severe expressive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0011351Moderate receptive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0011345Moderate expressive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0011350Mild receptive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0011346Mild expressive language delay2RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM113810258600825
HP:0000750HP:0006863Severe expressive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011352Severe receptive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011345Moderate expressive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011351Moderate receptive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011346Mild expressive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011350Mild receptive language delay2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM128110298312173
HP:0000750HP:0011351Moderate receptive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0011345Moderate expressive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0011350Mild receptive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0011346Mild expressive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0011352Severe receptive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0006863Severe expressive language delay2RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM151510432300075
HP:0000750HP:0011345Moderate expressive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0011351Moderate receptive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0011346Mild expressive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0011350Mild receptive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0006863Severe expressive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0011352Severe receptive language delay2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM1120618654610436
HP:0000750HP:0006863Severe expressive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011352Severe receptive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011345Moderate expressive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011351Moderate receptive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011346Mild expressive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011350Mild receptive language delay2RUBCN CL E G H9711404499ORPHA116228991613516
HP:0000750HP:0011345Moderate expressive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0011351Moderate receptive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0011346Mild expressive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0011350Mild receptive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0006863Severe expressive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0011352Severe receptive language delay2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0000750HP:0006863Severe expressive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011352Severe receptive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011345Moderate expressive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011351Moderate receptive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011346Mild expressive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011350Mild receptive language delay2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0000750HP:0011352Severe receptive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0006863Severe expressive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0011351Moderate receptive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0011345Moderate expressive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0011346Mild expressive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0011350Mild receptive language delay2SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM168421637608148
HP:0000750HP:0006863Severe expressive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011352Severe receptive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011345Moderate expressive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011351Moderate receptive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011346Mild expressive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011350Mild receptive language delay2SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0000750HP:0011346Mild expressive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0011350Mild receptive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0006863Severe expressive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0011352Severe receptive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0011345Moderate expressive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0011351Moderate receptive language delay2SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0000750HP:0006863Severe expressive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0011352Severe receptive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0011345Moderate expressive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0011351Moderate receptive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0011350Mild receptive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0011346Mild expressive language delay2SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM111410760600960
HP:0000750HP:0006863Severe expressive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011352Severe receptive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011345Moderate expressive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011351Moderate receptive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011346Mild expressive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011350Mild receptive language delay2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM1101318420612778
HP:0000750HP:0011352Severe receptive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0006863Severe expressive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0011351Moderate receptive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0011345Moderate expressive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0011350Mild receptive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0011346Mild expressive language delay2SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM190925566615743
HP:0000750HP:0011345Moderate expressive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0011351Moderate receptive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0011346Mild expressive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0011350Mild receptive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0006863Severe expressive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0011352Severe receptive language delay2SF3B4 CL E G H10262245ORPHA110510771605593
HP:0000750HP:0011351Moderate receptive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0011345Moderate expressive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0011350Mild receptive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0011346Mild expressive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0006863Severe expressive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0011352Severe receptive language delay2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000750HP:0011352Severe receptive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0006863Severe expressive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0011345Moderate expressive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0011351Moderate receptive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0011346Mild expressive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0011350Mild receptive language delay2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM117916088615564
HP:0000750HP:0006863Severe expressive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011352Severe receptive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011345Moderate expressive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011351Moderate receptive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011346Mild expressive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011350Mild receptive language delay2SGCB CL E G H6443119ORPHA150010806600900
HP:0000750HP:0011346Mild expressive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0011350Mild receptive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0006863Severe expressive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0011352Severe receptive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0011345Moderate expressive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0011351Moderate receptive language delay2SH2B1 CL E G H25970329249ORPHA127930417608937
HP:0000750HP:0011345Moderate expressive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0011351Moderate receptive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0011346Mild expressive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0011350Mild receptive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0006863Severe expressive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0011352Severe receptive language delay2SHANK3 CL E G H8535848652ORPHA193614294606230
HP:0000750HP:0011345Moderate expressive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0011351Moderate receptive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0011346Mild expressive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0011350Mild receptive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0011352Severe receptive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0006863Severe expressive language delay2SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM193614294606230
HP:0000750HP:0011346Mild expressive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0011350Mild receptive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0006863Severe expressive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0011352Severe receptive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0011345Moderate expressive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0011351Moderate receptive language delay2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0000750HP:0006863Severe expressive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0011352Severe receptive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0011345Moderate expressive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0011351Moderate receptive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0011346Mild expressive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0011350Mild receptive language delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0000750HP:0006863Severe expressive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0011352Severe receptive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0011345Moderate expressive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0011351Moderate receptive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0011346Mild expressive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0011350Mild receptive language delay2SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0000750HP:0006863Severe expressive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011352Severe receptive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011345Moderate expressive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011351Moderate receptive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011346Mild expressive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011350Mild receptive language delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0000750HP:0011346Mild expressive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0011350Mild receptive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0006863Severe expressive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0011352Severe receptive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0011345Moderate expressive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0011351Moderate receptive language delay2SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0000750HP:0011345Moderate expressive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0011351Moderate receptive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0011346Mild expressive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0011350Mild receptive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0006863Severe expressive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0011352Severe receptive language delay2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0000750HP:0011345Moderate expressive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0011351Moderate receptive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0011346Mild expressive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0011350Mild receptive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0006863Severe expressive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0011352Severe receptive language delay2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0000750HP:0011352Severe receptive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0006863Severe expressive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0011351Moderate receptive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0011345Moderate expressive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0011350Mild receptive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0011346Mild expressive language delay2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0000750HP:0011352Severe receptive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0006863Severe expressive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0011351Moderate receptive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0011345Moderate expressive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0011350Mild receptive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0011346Mild expressive language delay2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0000750HP:0006863Severe expressive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011352Severe receptive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011345Moderate expressive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011351Moderate receptive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011346Mild expressive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011350Mild receptive language delay2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0000750HP:0011345Moderate expressive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0011351Moderate receptive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0011346Mild expressive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0011350Mild receptive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0006863Severe expressive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0011352Severe receptive language delay2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000750HP:0006863Severe expressive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0011352Severe receptive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0011351Moderate receptive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0011345Moderate expressive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0011350Mild receptive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0011346Mild expressive language delay2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000750HP:0006863Severe expressive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011352Severe receptive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011345Moderate expressive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011351Moderate receptive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011346Mild expressive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011350Mild receptive language delay2SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139611164182279
HP:0000750HP:0011345Moderate expressive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0011351Moderate receptive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0011346Mild expressive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0011350Mild receptive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0006863Severe expressive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0011352Severe receptive language delay2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000750HP:0011345Moderate expressive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0011351Moderate receptive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0011346Mild expressive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0011350Mild receptive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0006863Severe expressive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0011352Severe receptive language delay2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM112929256613667
HP:0000750HP:0006863Severe expressive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011352Severe receptive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011345Moderate expressive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011351Moderate receptive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011346Mild expressive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011350Mild receptive language delay2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0000750HP:0011350Mild receptive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0011346Mild expressive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0006863Severe expressive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0011352Severe receptive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0011351Moderate receptive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0011345Moderate expressive language delay2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM126411201604975
HP:0000750HP:0011346Mild expressive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0011350Mild receptive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0006863Severe expressive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0011352Severe receptive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0011345Moderate expressive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0011351Moderate receptive language delay2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0000750HP:0011350Mild receptive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0011346Mild expressive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0011352Severe receptive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0006863Severe expressive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0011351Moderate receptive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0011345Moderate expressive language delay2SPART CL E G H23111101000ORPHA135318514607111
HP:0000750HP:0006863Severe expressive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011352Severe receptive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011351Moderate receptive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011345Moderate expressive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011350Mild receptive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011346Mild expressive language delay2SPR CL E G H669770594ORPHA119811257182125
HP:0000750HP:0011352Severe receptive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0006863Severe expressive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0011351Moderate receptive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0011345Moderate expressive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0011346Mild expressive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0011350Mild receptive language delay2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0000750HP:0011346Mild expressive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0011350Mild receptive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0006863Severe expressive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0011352Severe receptive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0011345Moderate expressive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0011351Moderate receptive language delay2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM193811276604985
HP:0000750HP:0006863Severe expressive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0011352Severe receptive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0011345Moderate expressive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0011351Moderate receptive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0011346Mild expressive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0011350Mild receptive language delay2STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM131011354604358
HP:0000750HP:0006863Severe expressive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011352Severe receptive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011345Moderate expressive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011351Moderate receptive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011346Mild expressive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011350Mild receptive language delay2STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0000750HP:0011346Mild expressive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0011350Mild receptive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0011352Severe receptive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0006863Severe expressive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0011351Moderate receptive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0011345Moderate expressive language delay2SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0000750HP:0006863Severe expressive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011352Severe receptive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011345Moderate expressive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011351Moderate receptive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011346Mild expressive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011350Mild receptive language delay2SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0000750HP:0011350Mild receptive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0011346Mild expressive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0011352Severe receptive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0006863Severe expressive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0011351Moderate receptive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0011345Moderate expressive language delay2SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0000750HP:0011345Moderate expressive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0011351Moderate receptive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0011346Mild expressive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0011350Mild receptive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0006863Severe expressive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0011352Severe receptive language delay2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0000750HP:0011345Moderate expressive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0011351Moderate receptive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0011346Mild expressive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0011350Mild receptive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0006863Severe expressive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0011352Severe receptive language delay2TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM112421066612655
HP:0000750HP:0006863Severe expressive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011352Severe receptive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011345Moderate expressive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011351Moderate receptive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011346Mild expressive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011350Mild receptive language delay2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0000750HP:0011345Moderate expressive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0011351Moderate receptive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0011346Mild expressive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0011350Mild receptive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0006863Severe expressive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0011352Severe receptive language delay2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM1116911592602054
HP:0000750HP:0006863Severe expressive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011352Severe receptive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011345Moderate expressive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011351Moderate receptive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011346Mild expressive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011350Mild receptive language delay2TBX4 CL E G H9496261279ORPHA127411603601719
HP:0000750HP:0011351Moderate receptive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0011345Moderate expressive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0011350Mild receptive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0011346Mild expressive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0011352Severe receptive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0006863Severe expressive language delay2TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1494551610057
HP:0000750HP:0011345Moderate expressive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0011351Moderate receptive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0011346Mild expressive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0011350Mild receptive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0006863Severe expressive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0011352Severe receptive language delay2TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM112918345611357
HP:0000750HP:0006863Severe expressive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0011352Severe receptive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0011345Moderate expressive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0011351Moderate receptive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0011346Mild expressive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0011350Mild receptive language delay2TH CL E G H7054101150ORPHA196711782191290
HP:0000750HP:0006863Severe expressive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0011352Severe receptive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0011345Moderate expressive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0011351Moderate receptive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0011346Mild expressive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0011350Mild receptive language delay2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0000750HP:0006863Severe expressive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0011352Severe receptive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0011345Moderate expressive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0011351Moderate receptive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0011346Mild expressive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0011350Mild receptive language delay2THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM134811799190160
HP:0000750HP:0006863Severe expressive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011352Severe receptive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011345Moderate expressive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011351Moderate receptive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011346Mild expressive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011350Mild receptive language delay2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM141111824604319
HP:0000750HP:0011345Moderate expressive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0011351Moderate receptive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0011346Mild expressive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0011350Mild receptive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0006863Severe expressive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0011352Severe receptive language delay2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM117011842608439
HP:0000750HP:0011352Severe receptive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0006863Severe expressive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0011345Moderate expressive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0011351Moderate receptive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0011346Mild expressive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0011350Mild receptive language delay2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0000750HP:0011345Moderate expressive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0011351Moderate receptive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0011346Mild expressive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0011350Mild receptive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0006863Severe expressive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0011352Severe receptive language delay2TMEM94 CL E G H9772618316618316618316OMIM112828983618163
HP:0000750HP:0011346Mild expressive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0011350Mild receptive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0006863Severe expressive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0011352Severe receptive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0011345Moderate expressive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0011351Moderate receptive language delay2TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM19930765610005
HP:0000750HP:0011345Moderate expressive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0011351Moderate receptive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0011346Mild expressive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0011350Mild receptive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0006863Severe expressive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0011352Severe receptive language delay2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0000750HP:0011345Moderate expressive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0011351Moderate receptive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0011346Mild expressive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0011350Mild receptive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0011352Severe receptive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0006863Severe expressive language delay2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0000750HP:0011345Moderate expressive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0011351Moderate receptive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0011346Mild expressive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0011350Mild receptive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0006863Severe expressive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0011352Severe receptive language delay2TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM132626894613354
HP:0000750HP:0011345Moderate expressive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0011351Moderate receptive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0011346Mild expressive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0011350Mild receptive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0006863Severe expressive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0011352Severe receptive language delay2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0000750HP:0006863Severe expressive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011352Severe receptive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011345Moderate expressive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011351Moderate receptive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011346Mild expressive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011350Mild receptive language delay2TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0000750HP:0011346Mild expressive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0011350Mild receptive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0006863Severe expressive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0011352Severe receptive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0011345Moderate expressive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0011351Moderate receptive language delay2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM1127612303601893
HP:0000750HP:0011345Moderate expressive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0011351Moderate receptive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0011346Mild expressive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0011350Mild receptive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0006863Severe expressive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0011352Severe receptive language delay2TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM137712306604506
HP:0000750HP:0006863Severe expressive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011352Severe receptive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011345Moderate expressive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011351Moderate receptive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011350Mild receptive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011346Mild expressive language delay2TRMT1 CL E G H55621618302618302618302OMIM113825980611669
HP:0000750HP:0011351Moderate receptive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0011345Moderate expressive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0011350Mild receptive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0011346Mild expressive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0011352Severe receptive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0006863Severe expressive language delay2TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM124912373603372
HP:0000750HP:0006863Severe expressive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011352Severe receptive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011345Moderate expressive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011351Moderate receptive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011346Mild expressive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011350Mild receptive language delay2TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM113926262614426
HP:0000750HP:0011346Mild expressive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0011350Mild receptive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0006863Severe expressive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0011352Severe receptive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0011345Moderate expressive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0011351Moderate receptive language delay2TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM19420778191130
HP:0000750HP:0006863Severe expressive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011352Severe receptive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011345Moderate expressive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011351Moderate receptive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011346Mild expressive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011350Mild receptive language delay2TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM19420778191130
HP:0000750HP:0011345Moderate expressive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0011351Moderate receptive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0011346Mild expressive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0011350Mild receptive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0006863Severe expressive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0011352Severe receptive language delay2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0000750HP:0011345Moderate expressive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0011351Moderate receptive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0011346Mild expressive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0011350Mild receptive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0006863Severe expressive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0011352Severe receptive language delay2TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM110420670607556
HP:0000750HP:0011351Moderate receptive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0011345Moderate expressive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0011350Mild receptive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0011346Mild expressive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0011352Severe receptive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0006863Severe expressive language delay2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA110420670607556
HP:0000750HP:0011350Mild receptive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0011346Mild expressive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0011352Severe receptive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0006863Severe expressive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0011351Moderate receptive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0011345Moderate expressive language delay2UBA5 CL E G H79876442835ORPHA122323230610552
HP:0000750HP:0006863Severe expressive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0011352Severe receptive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0011345Moderate expressive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0011351Moderate receptive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0011350Mild receptive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0011346Mild expressive language delay2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0000750HP:0006863Severe expressive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011352Severe receptive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011345Moderate expressive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011351Moderate receptive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011346Mild expressive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011350Mild receptive language delay2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM177612632300072
HP:0000750HP:0011352Severe receptive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0006863Severe expressive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0011351Moderate receptive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0011345Moderate expressive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0011346Mild expressive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0011350Mild receptive language delay2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0000750HP:0011345Moderate expressive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0011351Moderate receptive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0011346Mild expressive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0011350Mild receptive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0006863Severe expressive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0011352Severe receptive language delay2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0000750HP:0011346Mild expressive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0011350Mild receptive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0006863Severe expressive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0011352Severe receptive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0011345Moderate expressive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0011351Moderate receptive language delay2VPS37A CL E G H137492319199ORPHA125924928609927
HP:0000750HP:0006863Severe expressive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0011352Severe receptive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0011351Moderate receptive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0011345Moderate expressive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0011350Mild receptive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0011346Mild expressive language delay2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0000750HP:0006863Severe expressive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0011352Severe receptive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0011345Moderate expressive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0011351Moderate receptive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0011346Mild expressive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0011350Mild receptive language delay2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM127617327615049
HP:0000750HP:0006863Severe expressive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011352Severe receptive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011345Moderate expressive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011351Moderate receptive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011346Mild expressive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011350Mild receptive language delay2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0000750HP:0011351Moderate receptive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0011345Moderate expressive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0011350Mild receptive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0011346Mild expressive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0006863Severe expressive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0011352Severe receptive language delay2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0000750HP:0006863Severe expressive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0006863Severe expressive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011352Severe receptive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0011352Severe receptive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011345Moderate expressive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0011345Moderate expressive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011351Moderate receptive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0011351Moderate receptive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011346Mild expressive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0011346Mild expressive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011350Mild receptive language delay2WWOX CL E G H51741284282ORPHA1110212799605131
HP:0000750HP:0011350Mild receptive language delay2WWOX CL E G H51741442835ORPHA1110212799605131
HP:0000750HP:0011346Mild expressive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0011350Mild receptive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0011352Severe receptive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0006863Severe expressive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0011345Moderate expressive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0011351Moderate receptive language delay2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000750HP:0011350Mild receptive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0011346Mild expressive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0006863Severe expressive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0011352Severe receptive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0011345Moderate expressive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0011351Moderate receptive language delay2YWHAG CL E G H7532442835ORPHA118912852605356
HP:0000750HP:0011345Moderate expressive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0011351Moderate receptive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0011346Mild expressive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0011350Mild receptive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0006863Severe expressive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0011352Severe receptive language delay2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0000750HP:0011352Severe receptive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0006863Severe expressive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0011345Moderate expressive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0011351Moderate receptive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0011346Mild expressive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0011350Mild receptive language delay2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0000750HP:0011346Mild expressive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0011350Mild receptive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0006863Severe expressive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0011352Severe receptive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0011345Moderate expressive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0011351Moderate receptive language delay2ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM127316966608668
HP:0000750HP:0011345Moderate expressive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0011351Moderate receptive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0011346Mild expressive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0011350Mild receptive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0011352Severe receptive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
HP:0000750HP:0006863Severe expressive language delay2ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM128213128314990
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000750HP:0000750Delayed speech and language development0ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0000750Delayed speech and language development0ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0000750Delayed speech and language development0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0000750Delayed speech and language development0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0000750Delayed speech and language development0BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0000750Delayed speech and language development0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0000750Delayed speech and language development0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0000750Delayed speech and language development0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0000750Delayed speech and language development0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0000750Delayed speech and language development0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0000750Delayed speech and language development0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0000750Delayed speech and language development0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0000750Delayed speech and language development0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0000750Delayed speech and language development0KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0000750Delayed speech and language development0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0000750Delayed speech and language development0LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0000750Delayed speech and language development0MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0000750Delayed speech and language development0NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0000750Delayed speech and language development0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0000750Delayed speech and language development0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0000750Delayed speech and language development0POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0000750Delayed speech and language development0PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0000750Delayed speech and language development0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0000750Delayed speech and language development0PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0000750Delayed speech and language development0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0000750Delayed speech and language development0RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0000750Delayed speech and language development0SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0000750Delayed speech and language development0SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0000750Delayed speech and language development0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0000750Delayed speech and language development0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0000750Delayed speech and language development0TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0000750Delayed speech and language development0TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0000750Delayed speech and language development0TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0000750Delayed speech and language development0UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0000750Delayed speech and language development0WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0000750Delayed speech and language development0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0001344Absent speech1ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0002474Expressive language delay1ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0010863Receptive language delay1ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0001344Absent speech1ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0002474Expressive language delay1ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0010863Receptive language delay1ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0010863Receptive language delay1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0002474Expressive language delay1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0001344Absent speech1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0002474Expressive language delay1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0010863Receptive language delay1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0001344Absent speech1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0010863Receptive language delay1BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0002474Expressive language delay1BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0001344Absent speech1BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0010863Receptive language delay1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0002474Expressive language delay1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0001344Absent speech1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0002474Expressive language delay1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0010863Receptive language delay1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0001344Absent speech1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0002474Expressive language delay1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0010863Receptive language delay1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0001344Absent speech1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0010863Receptive language delay1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0002474Expressive language delay1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0001344Absent speech1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0001344Absent speech1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0010863Receptive language delay1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0002474Expressive language delay1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0002474Expressive language delay1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0010863Receptive language delay1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0001344Absent speech1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0002474Expressive language delay1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0010863Receptive language delay1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0001344Absent speech1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0002474Expressive language delay1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0010863Receptive language delay1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0001344Absent speech1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0002474Expressive language delay1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0010863Receptive language delay1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0001344Absent speech1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0002474Expressive language delay1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0010863Receptive language delay1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0001344Absent speech1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0002474Expressive language delay1LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0010863Receptive language delay1LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0001344Absent speech1LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0002474Expressive language delay1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0010863Receptive language delay1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0001344Absent speech1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0002474Expressive language delay1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0010863Receptive language delay1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0001344Absent speech1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0010863Receptive language delay1NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0002474Expressive language delay1NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0001344Absent speech1NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0010863Receptive language delay1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0002474Expressive language delay1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0001344Absent speech1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0002474Expressive language delay1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0010863Receptive language delay1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0001344Absent speech1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0002474Expressive language delay1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0010863Receptive language delay1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0001344Absent speech1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0002474Expressive language delay1POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0010863Receptive language delay1POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0001344Absent speech1POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0001344Absent speech1PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0002474Expressive language delay1PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0010863Receptive language delay1PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0002474Expressive language delay1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0010863Receptive language delay1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0001344Absent speech1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0010863Receptive language delay1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0002474Expressive language delay1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0001344Absent speech1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0002474Expressive language delay1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0010863Receptive language delay1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0001344Absent speech1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0001344Absent speech1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0002474Expressive language delay1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0010863Receptive language delay1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0002474Expressive language delay1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0010863Receptive language delay1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0001344Absent speech1SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0002474Expressive language delay1SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0010863Receptive language delay1SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0001344Absent speech1SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0010863Receptive language delay1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0002474Expressive language delay1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0001344Absent speech1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0010863Receptive language delay1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0002474Expressive language delay1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0001344Absent speech1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0010863Receptive language delay1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0002474Expressive language delay1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0001344Absent speech1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0001344Absent speech1TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0002474Expressive language delay1TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0010863Receptive language delay1TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0002474Expressive language delay1TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0010863Receptive language delay1TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0001344Absent speech1TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0001344Absent speech1TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0002474Expressive language delay1TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0010863Receptive language delay1TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0002474Expressive language delay1UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0010863Receptive language delay1UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0001344Absent speech1UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0002474Expressive language delay1WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0010863Receptive language delay1WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0001344Absent speech1WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0010863Receptive language delay1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0002474Expressive language delay1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0001344Absent speech1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0006863Severe expressive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011352Severe receptive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011345Moderate expressive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011351Moderate receptive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011346Mild expressive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011350Mild receptive language delay2ALDH18A1 CL E G H5832447760ORPHA05869722138250
HP:0000750HP:0011352Severe receptive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0006863Severe expressive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0011345Moderate expressive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0011351Moderate receptive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0011346Mild expressive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0011350Mild receptive language delay2ALG13 CL E G H79868324422ORPHA095030881300776
HP:0000750HP:0006863Severe expressive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011352Severe receptive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011351Moderate receptive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011345Moderate expressive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011350Mild receptive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011346Mild expressive language delay2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM045026837300647
HP:0000750HP:0011346Mild expressive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0011350Mild receptive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0006863Severe expressive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0011352Severe receptive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0011345Moderate expressive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0011351Moderate receptive language delay2ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0000750HP:0011350Mild receptive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0011346Mild expressive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0006863Severe expressive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0011352Severe receptive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0011345Moderate expressive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0011351Moderate receptive language delay2BIN1 CL E G H274169186ORPHA06561052601248
HP:0000750HP:0006863Severe expressive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011352Severe receptive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011351Moderate receptive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011345Moderate expressive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011350Mild receptive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011346Mild expressive language delay2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0000750HP:0011345Moderate expressive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0011351Moderate receptive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0011346Mild expressive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0011350Mild receptive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0006863Severe expressive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0011352Severe receptive language delay2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM04152555300304
HP:0000750HP:0011351Moderate receptive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0011345Moderate expressive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0011350Mild receptive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0011346Mild expressive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0011352Severe receptive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0006863Severe expressive language delay2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0000750HP:0011345Moderate expressive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0011351Moderate receptive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0011350Mild receptive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0011346Mild expressive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0006863Severe expressive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0011352Severe receptive language delay2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM09053091600855
HP:0000750HP:0006863Severe expressive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011352Severe receptive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011345Moderate expressive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011351Moderate receptive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011346Mild expressive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011350Mild receptive language delay2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0000750HP:0011346Mild expressive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0011350Mild receptive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0006863Severe expressive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0011352Severe receptive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0011345Moderate expressive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0011351Moderate receptive language delay2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0000750HP:0011346Mild expressive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0011350Mild receptive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0006863Severe expressive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0011352Severe receptive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0011345Moderate expressive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0011351Moderate receptive language delay2GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM08017493602842
HP:0000750HP:0006863Severe expressive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011352Severe receptive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011345Moderate expressive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011351Moderate receptive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011346Mild expressive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011350Mild receptive language delay2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM022729239610621
HP:0000750HP:0011352Severe receptive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0006863Severe expressive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0011345Moderate expressive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0011351Moderate receptive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0011346Mild expressive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0011350Mild receptive language delay2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0000750HP:0011346Mild expressive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0011350Mild receptive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0011352Severe receptive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0006863Severe expressive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0011351Moderate receptive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0011345Moderate expressive language delay2KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM023029079609132
HP:0000750HP:0006863Severe expressive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011352Severe receptive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011345Moderate expressive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011351Moderate receptive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011346Mild expressive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011350Mild receptive language delay2LRP5 CL E G H40412788ORPHA018196697603506
HP:0000750HP:0011346Mild expressive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0011350Mild receptive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0006863Severe expressive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0011352Severe receptive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0011345Moderate expressive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0011351Moderate receptive language delay2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0000750HP:0011345Moderate expressive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0011351Moderate receptive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0011346Mild expressive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0011350Mild receptive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0006863Severe expressive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0011352Severe receptive language delay2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0000750HP:0011350Mild receptive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0011346Mild expressive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0006863Severe expressive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0011352Severe receptive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0011351Moderate receptive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0011345Moderate expressive language delay2NF1 CL E G H4763139474ORPHA0123927765613113
HP:0000750HP:0006863Severe expressive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0011352Severe receptive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0011345Moderate expressive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0011351Moderate receptive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0011350Mild receptive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0011346Mild expressive language delay2NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0000750HP:0006863Severe expressive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0011352Severe receptive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0011345Moderate expressive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0011351Moderate receptive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0011346Mild expressive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0011350Mild receptive language delay2NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0000750HP:0006863Severe expressive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011352Severe receptive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011345Moderate expressive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011351Moderate receptive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011346Mild expressive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011350Mild receptive language delay2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM016417151607213
HP:0000750HP:0011345Moderate expressive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0011351Moderate receptive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0011346Mild expressive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0011350Mild receptive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0006863Severe expressive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0011352Severe receptive language delay2POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM041625902614828
HP:0000750HP:0006863Severe expressive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011352Severe receptive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011345Moderate expressive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011351Moderate receptive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011346Mild expressive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011350Mild receptive language delay2PRNP CL E G H5621157941ORPHA01919449176640
HP:0000750HP:0011345Moderate expressive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0011351Moderate receptive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0011346Mild expressive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0011350Mild receptive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0006863Severe expressive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0011352Severe receptive language delay2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM07789453606810
HP:0000750HP:0006863Severe expressive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011352Severe receptive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011345Moderate expressive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011351Moderate receptive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011346Mild expressive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011350Mild receptive language delay2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0000750HP:0011345Moderate expressive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0011351Moderate receptive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0011346Mild expressive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0011350Mild receptive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0006863Severe expressive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0011352Severe receptive language delay2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0000750HP:0006863Severe expressive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0011352Severe receptive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0011345Moderate expressive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0011351Moderate receptive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0011346Mild expressive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0011350Mild receptive language delay2RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0000750HP:0006863Severe expressive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011352Severe receptive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011345Moderate expressive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011351Moderate receptive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011346Mild expressive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011350Mild receptive language delay2SCN3A CL E G H6328617935EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4617935CN244552OMIM0142010590182391
HP:0000750HP:0011345Moderate expressive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0011351Moderate receptive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0011346Mild expressive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0011350Mild receptive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0006863Severe expressive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0011352Severe receptive language delay2SEC23A CL E G H1048450814ORPHA017910701610511
HP:0000750HP:0011346Mild expressive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0011350Mild receptive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0006863Severe expressive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0011352Severe receptive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0011345Moderate expressive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0011351Moderate receptive language delay2SPEG CL E G H10290169186ORPHA0148216901615950
HP:0000750HP:0011351Moderate receptive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0011345Moderate expressive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0011350Mild receptive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0011346Mild expressive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0011352Severe receptive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0006863Severe expressive language delay2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0000750HP:0006863Severe expressive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0011352Severe receptive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0011351Moderate receptive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0011345Moderate expressive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0011350Mild receptive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0011346Mild expressive language delay2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0000750HP:0006863Severe expressive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011352Severe receptive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011345Moderate expressive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011351Moderate receptive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011346Mild expressive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011350Mild receptive language delay2TRIP4 CL E G H9325486815ORPHA021212310604501
HP:0000750HP:0011345Moderate expressive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0011351Moderate receptive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0011346Mild expressive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0011350Mild receptive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0006863Severe expressive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0011352Severe receptive language delay2TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM011014006606680
HP:0000750HP:0006863Severe expressive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0011352Severe receptive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0011345Moderate expressive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0011351Moderate receptive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0011346Mild expressive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0011350Mild receptive language delay2TTN CL E G H7273169186ORPHA02750312403188840
HP:0000750HP:0006863Severe expressive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011352Severe receptive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011345Moderate expressive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011351Moderate receptive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011346Mild expressive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011350Mild receptive language delay2UGT1A1 CL E G H5465879234ORPHA031512530191740
HP:0000750HP:0011346Mild expressive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0011350Mild receptive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0006863Severe expressive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0011352Severe receptive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0011345Moderate expressive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0011351Moderate receptive language delay2WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0000750HP:0011352Severe receptive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0006863Severe expressive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0011351Moderate receptive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0011345Moderate expressive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0011350Mild receptive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0000750HP:0011346Mild expressive language delay2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144


Genes (497) :AARS AASS ACADL ACADS ACOX2 ADAR ADK ADSL AFF2 AGA AIFM1 AIMP2 ALDH18A1 ALDH5A1 ALDH7A1 ALG11 ALG13 AMER1 ANKRD11 AP3B2 AP4B1 APOPT1 ARF1 ARID1A ARID1B ARID2 ARMC9 ARV1 ARX ASH1L ASPA ASPM ASXL2 ASXL3 ATAD3A ATP5F1D ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATXN3 AUH AUTS2 BBS1 BCL11B BIN1 BMP4 BMPR1B BPTF BRAT1 BRCA1 BRPF1 BRWD3 BSCL2 BTK C12ORF4 C19ORF12 C19orf12 C2CD3 C8ORF37 C8orf37 CACNA1A CACNA1E CAMK2A CAMK2B CAMTA1 CASK CBL CCDC174 CCDC47 CCDC88A CCND2 CDC42 CDK10 CDK13 CEP63 CHAMP1 CHD3 CHKB CHMP1A CLCN4 CLIC2 CLN8 CLP1 CLTC CNKSR2 CNNM2 CNTNAP2 COA8 COG1 COG4 COG6 COL11A2 COL2A1 CP CPLX1 CRADD CRAT CREBBP CSNK2A1 CSPP1 CTBP1 CTNNA2 CUL4B CWC27 CWF19L1 CYFIP2 DAG1 DCPS DEAF1 DENND5A DHDDS DHTKD1 DHX30 DLG3 DMD DNAJC12 DNM1 DPF2 DPYD DPYS DYRK1A EARS2 EBF3 EED EEF1A2 EFTUD2 EHMT1 EIF2S3 ELP2 EMC1 EP300 ERCC2 ERLIN2 ERMARD EXOSC2 EXOSC3 EZH2 FBXO11 FGF12 FGFR1 FKTN FLCN FLII FLNA FOXG1 FOXP1 FOXP2 FRA16E FRMD4A FRMPD4 FRRS1L FTSJ1 GABBR2 GABRB2 GABRD GALE GAMT GATM GEMIN4 GMNN GMPPB GNAO1 GNB1 GNB5 GNE GNS GORAB GPAA1 GPT2 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 HACE1 HCN1 HERC1 HERC2 HIKESHI HIVEP2 HMGA2 HNMT HNRNPH2 HNRNPU HOXB1 HSD17B10 HTT HUWE1 IFIH1 IFT172 IGF1R INPP5E INTU IPW IQSEC2 ISCA2 ITPR1 KANSL1 KAT6A KAT6B KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNJ10 KCNQ5 KDM1A KDM5B KDM5C KIAA0586 KIAA1109 KIDINS220 KIF1A KIF5C KLHL15 KMT2A KMT2C KMT5B KNL1 L1CAM LAGE3 LAMA1 LAS1L LEMD3 LIG4 LINGO1 LIPT2 LNPK LRP5 LRPPRC LTBP4 MAGEL2 MAPRE2 MBD5 MBOAT7 MCM3AP MCOLN1 MCTP2 MDH2 MECP2 MEF2C MEIS2 MFF MFSD2A MFSD8 MID2 MKRN3 MKRN3-AS1 MPDU1 MRE11 MRPS34 MSTO1 MT-ATP6 MTFMT MTPAP MYO9A MYRF MYT1L NAA15 NACC1 NALCN NCAPD2 NDN NECAP1 NEDD4L NEK1 NEXMIF NF1 NFE2L2 NFIX NIPBL NLGN4X NPAP1 NRAS NSD1 NSDHL NSUN2 NTRK2 NUP107 NUP62 NUS1 OPHN1 ORC6 OSGEP OTUD6B PACS1 PACS2 PAK1 PAK3 PBX1 PDE4D PEX1 PGAP1 PGAP2 PGK1 PHF8 PIGA PIGG PIGN PIGO PIGP PIGV PIGW PIGY PIK3R1 PLA2G6 PLAA PLP1 PMPCA PMPCB PNPT1 POMGNT2 POMT1 PPM1D PPP1CB PPP2R1A PPP2R5D PPP3CA PRDM16 PRKAR1A PRKD1 PRKRA PRMT7 PRNP PRODH PRPS1 PSMD12 PTS PUF60 PUM1 PURA PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB3GAP2 RAC1 RAI1 RARS2 REPS1 RERE RHOBTB2 RLIM RMND1 RNASET2 RNF125 RORA RPL10 RPS6KA3 RTTN RUBCN RUSC2 RYR1 SATB2 SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SEC23A SERAC1 SET SETBP1 SETD2 SETD5 SF3B4 SFXN4 SGCB SH2B1 SHANK3 SHROOM4 SIK1 SIM1 SIN3A SKI SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A4 SLC25A12 SLC2A1 SLC33A1 SLC6A17 SLC6A3 SLC6A8 SLC9A6 SMARCA2 SMARCE1 SMC1A SNORD115-1 SNORD116-1 SNRPN SNX14 SOBP SOX5 SPARC SPART SPATA5 SPEG SPR SPTBN2 SPTBN4 SRCAP ST3GAL5 STAG1 STRADA STXBP1 SYNGAP1 SYNJ1 SZT2 TAF1 TANGO2 TBC1D23 TBC1D7 TBCD TBL1XR1 TBX1 TBX4 TCF4 TCTN2 TECR TELO2 TENT5A TH THRB TIMM50 TINF2 TLK2 TMCO1 TMEM106B TMEM231 TMEM94 TMTC3 TNIK TOE1 TP53RK TPP1 TPRN TRAF7 TRAK1 TRAPPC11 TRIO TRIP12 TRIP4 TRIT1 TRMT1 TRPV6 TSHR TTI2 TTN TUBB TUBB3 TUBB4A TWIST2 UBA5 UBE3A UBE3B UFC1 UFM1 UGT1A1 UNC80 UQCRQ USP27X USP9X VAC14 VLDLR VPS11 VPS37A WAC WARS2 WDR26 WDR34 WDR45 WDR45B WDR62 WDR73 WDR81 WWOX XRCC4 YME1L1 YWHAG YY1 ZBTB18 ZC4H2 ZDHHC15 ZEB2 ZMYND11 ZNF711 ZSWIM6

Diseases (515) :442835 238700 201470 617308 225154 614300 103050 309548 93 208400 238329 447760 271980 266100 324422 300373 261250 614066 618185 614607 617808 617622 309510 314918 608716 617190 617183 618120 300423 357074 2834 278250 617403 276241 276244 276238 67046 250950 615834 209900 618092 169186 616849 529962 617755 617883 617333 300659 363400 615924 300755 618221 614298 617406 314647 614756 613563 616816 617694 617360 614728 618205 602541 600143 411493 436271 611209 618150 615328 3450 48818 614499 617917 180849 617062 617915 300354 250410 453521 613818 819 617836 204750 300850 98896 617384 618027 293948 274270 222748 614104 617330 617561 79113 610536 610253 300148 617270 616875 613684 601675 75857 615544 617763 277590 618089 166250 272 300321 613670 602081 136570 309549 230350 612736 612718 616835 617173 617182 231070 617810 477673 245570 617691 464282 176270 94063 616739 238769 614744 300438 85328 616394 270450 610156 617926 217377 208513 610443 85201 37612 618284 612780 616728 618109 85279 617296 319182 605130 617768 617788 604321 2466 301006 615960 606593 2788 220111 616734 228402 618124 1596 300055 228384 261190 610951 251347 502423 617675 614947 613672 618198 618113 616521 617787 616266 263520 139474 601321 617744 614753 122470 300495 613224 300831 611091 616730 617831 300486 613803 617729 615009 618067 300558 617641 280651 614613 601539 300653 300263 616917 614749 616809 269880 610217 521426 312080 1170 213200 618135 86812 617450 617506 617364 612067 617157 157941 239500 617516 13 617931 614438 617982 182290 617916 300978 612951 616260 618060 300998 300844 614833 404499 617773 251019 612313 617935 50814 618106 616831 615761 245 154400 615578 119 329249 48652 606232 171829 613406 604369 71277 606777 52503 300352 209850 613671 313892 616803 616507 101000 70594 352403 615386 617635 300966 617695 248000 602342 1727 188400 261279 614020 617952 101150 605407 188570 613990 618050 617964 618316 617028 617730 204500 613307 618164 617061 617752 486815 618302 618188 609152 615541 615771 156610 612438 200110 920 238446 79234 300968 617054 224050 319199 614898 616708 615633 604317 251300 610185 284282 616541 617557 314580 616083 300803 46 618006 616586 613661 617276 617796 615485 618012 617237 607932 618056 615948 618285 617798 617799 163937 300749 618268 617507 615938 616737 616579 614961 300114 300886 615803 301008 616418 610042 263501 613489 617976 397715 618174 85293 618008 616538 616459 617171 617281 617804 616346 614924 616409 616393 611225 614678 617166 610883 261144 466688 616819 300983 616981 617904 617829 1606 617913 615350 615351 615473 617493 488613 3166 252940 616281 617864 614254 617820 616139 617162 324262 617011 616881 616977 300986 617391 617435 615846 616370 616268 616366 616056 617601 617822 614255 615282 300982 309585 618103 617668 618090 615547 617188 578 252650 617339 300260 617086 616486 300928 609180 617664 617393 617983 617201 85277 300912 117550 617830 505237 618158 615802 614207 300868 614080 617599 239300 616025 617954 614932 613155 616362 616355 617711 301835 508488 616158 616420 617807 614225 617751 1713 611523 618004 614922 617938 3208 614739 616078 300434 616341 59 617105 616657 612949 608885 614482 616269 238455 85278 300243 601358 616938 616354 616577 617519 2044 136140 370938 609056 611087 612164 616878 617193 2896 610954 616654 616954 617698 213980 614970 617255 614969 369840 617873 300570 617132 105830 244450 618076 617899 616801 615159 300984 466934 616683 617710 617616 300894 617977 617302 612337 300577 235730 617865 99900 135900 261222
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.