Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Neurodevelopmental delay (HP:0012758)help
..Starting node
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Delayed 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 H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000750HP:0000750Delayed speech and language development0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000750HP:0000750Delayed speech and language development0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0000750HP:0000750Delayed speech and language development0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0000750HP:0000750Delayed speech and language development0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000750HP:0000750Delayed speech and language development0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000750HP:0000750Delayed speech and language development0ADAR CL E G H103225154ORPHA1471225146920
HP:0000750HP:0000750Delayed speech and language development0ADAR CL E G H103225154ORPHA1654225146920
HP:0000750HP:0000750Delayed speech and language development0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0000750HP:0000750Delayed speech and language development0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0000750HP:0000750Delayed speech and language development0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000750HP:0000750Delayed speech and language development0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000750HP:0000750Delayed speech and language development0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13413776300806
HP:0000750HP:0000750Delayed speech and language development0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13493776300806
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H17593ORPHA1330318613228
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H17593ORPHA1355318613228
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0000750HP:0000750Delayed speech and language development0AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0000750HP:0000750Delayed speech and language development0AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0000750HP:0000750Delayed speech and language development0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000750HP:0000750Delayed speech and language development0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000750HP:0000750Delayed speech and language development0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0000750HP:0000750Delayed speech and language development0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0000750HP:0000750Delayed speech and language development0AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0000750HP:0000750Delayed speech and language development0AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0000750HP:0000750Delayed speech and language development0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0000750HP:0000750Delayed speech and language development0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0000750HP:0000750Delayed speech and language development0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0000750HP:0000750Delayed speech and language development0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0000750HP:0000750Delayed speech and language development0ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM145652103180
HP:0000750HP:0000750Delayed speech and language development0ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM155652103180
HP:0000750HP:0000750Delayed speech and language development0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000750HP:0000750Delayed speech and language development0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000750HP:0000750Delayed speech and language development0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000750HP:0000750Delayed speech and language development0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000750HP:0000750Delayed speech and language development0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000750HP:0000750Delayed speech and language development0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000750HP:0000750Delayed speech and language development0ARV1 CL E G H64801442835ORPHA16229561611647
HP:0000750HP:0000750Delayed speech and language development0ARV1 CL E G H64801442835ORPHA16529561611647
HP:0000750HP:0000750Delayed speech and language development0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0000750HP:0000750Delayed speech and language development0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0000750HP:0000750Delayed speech and language development0ASPA CL E G H443314918ORPHA1245756608034
HP:0000750HP:0000750Delayed speech and language development0ASPA CL E G H443314918ORPHA1281756608034
HP:0000750HP:0000750Delayed speech and language development0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM192019048605481
HP:0000750HP:0000750Delayed speech and language development0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1110319048605481
HP:0000750HP:0000750Delayed speech and language development0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0000750HP:0000750Delayed speech and language development0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0000750HP:0000750Delayed speech and language development0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000750HP:0000750Delayed speech and language development0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000750HP:0000750Delayed speech and language development0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0000750HP:0000750Delayed speech and language development0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0000750HP:0000750Delayed speech and language development0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM126318305300556
HP:0000750HP:0000750Delayed speech and language development0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM128618305300556
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545357074ORPHA141718481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545357074ORPHA145818481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523357074ORPHA179851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523357074ORPHA193851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523442835ORPHA179851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523442835ORPHA193851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000750HP:0000750Delayed speech and language development0ATP6V1E1 CL E G H529357074ORPHA1160857108746
HP:0000750HP:0000750Delayed speech and language development0ATP6V1E1 CL E G H529357074ORPHA1168857108746
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H54967046ORPHA1145890600529
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H54967046ORPHA1177890600529
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0000750HP:0000750Delayed speech and language development0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0000750HP:0000750Delayed speech and language development0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0000750HP:0000750Delayed speech and language development0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000750HP:0000750Delayed speech and language development0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000750HP:0000750Delayed speech and language development0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000750HP:0000750Delayed speech and language development0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000750HP:0000750Delayed speech and language development0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM12511077603248
HP:0000750HP:0000750Delayed speech and language development0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM12731077603248
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186529962ORPHA11293581601819
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186529962ORPHA11393581601819
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11293581601819
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11393581601819
HP:0000750HP:0000750Delayed speech and language development0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1122071100113705
HP:0000750HP:0000750Delayed speech and language development0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1125861100113705
HP:0000750HP:0000750Delayed speech and language development0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0000750HP:0000750Delayed speech and language development0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0000750HP:0000750Delayed speech and language development0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM145217342300553
HP:0000750HP:0000750Delayed speech and language development0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM147217342300553
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580363400ORPHA133015832606158
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580363400ORPHA137315832606158
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0000750HP:0000750Delayed speech and language development0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000750HP:0000750Delayed speech and language development0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000750HP:0000750Delayed speech and language development0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0000750HP:0000750Delayed speech and language development0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0000750HP:0000750Delayed speech and language development0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000750HP:0000750Delayed speech and language development0CACNA1A CL E G H773442835ORPHA120471388601011
HP:0000750HP:0000750Delayed speech and language development0CACNA1A CL E G H773442835ORPHA123261388601011
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0000750HP:0000750Delayed speech and language development0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM17061541165360
HP:0000750HP:0000750Delayed speech and language development0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM18581541165360
HP:0000750HP:0000750Delayed speech and language development0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0000750HP:0000750Delayed speech and language development0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1901770603464
HP:0000750HP:0000750Delayed speech and language development0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1941770603464
HP:0000750HP:0000750Delayed speech and language development0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0000750HP:0000750Delayed speech and language development0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0000750HP:0000750Delayed speech and language development0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM116725815614724
HP:0000750HP:0000750Delayed speech and language development0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM120025815614724
HP:0000750HP:0000750Delayed speech and language development0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000750HP:0000750Delayed speech and language development0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000750HP:0000750Delayed speech and language development0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0000750HP:0000750Delayed speech and language development0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0000750HP:0000750Delayed speech and language development0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14312079607837
HP:0000750HP:0000750Delayed speech and language development0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14832079607837
HP:0000750HP:0000750Delayed speech and language development0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0000750HP:0000750Delayed speech and language development0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0000750HP:0000750Delayed speech and language development0CLTC CL E G H1213442835ORPHA11022092118955
HP:0000750HP:0000750Delayed speech and language development0CLTC CL E G H1213442835ORPHA12022092118955
HP:0000750HP:0000750Delayed speech and language development0CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0000750HP:0000750Delayed speech and language development0CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0000750HP:0000750Delayed speech and language development0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0000750HP:0000750Delayed speech and language development0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM122118620606976
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM124718620606976
HP:0000750HP:0000750Delayed speech and language development0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM128118621606977
HP:0000750HP:0000750Delayed speech and language development0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM129718621606977
HP:0000750HP:0000750Delayed speech and language development0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA17052187120290
HP:0000750HP:0000750Delayed speech and language development0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA19742187120290
HP:0000750HP:0000750Delayed speech and language development0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA112132200120140
HP:0000750HP:0000750Delayed speech and language development0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA115402200120140
HP:0000750HP:0000750Delayed speech and language development0CP CL E G H135648818ORPHA14662295117700
HP:0000750HP:0000750Delayed speech and language development0CP CL E G H135648818ORPHA15712295117700
HP:0000750HP:0000750Delayed speech and language development0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1442340603454
HP:0000750HP:0000750Delayed speech and language development0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1462340603454
HP:0000750HP:0000750Delayed speech and language development0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM1652342600184
HP:0000750HP:0000750Delayed speech and language development0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11032342600184
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000750HP:0000750Delayed speech and language development0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0000750HP:0000750Delayed speech and language development0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0000750HP:0000750Delayed speech and language development0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0000750HP:0000750Delayed speech and language development0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0000750HP:0000750Delayed speech and language development0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM113510664617170
HP:0000750HP:0000750Delayed speech and language development0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM119610664617170
HP:0000750HP:0000750Delayed speech and language development0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0000750HP:0000750Delayed speech and language development0CYFIP2 CL E G H26999442835ORPHA18413760606323
HP:0000750HP:0000750Delayed speech and language development0CYFIP2 CL E G H26999442835ORPHA117513760606323
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947442835ORPHA119920603608172
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947442835ORPHA125620603608172
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM119920603608172
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM125620603608172
HP:0000750HP:0000750Delayed speech and language development0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM121823537614984
HP:0000750HP:0000750Delayed speech and language development0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM133723537614984
HP:0000750HP:0000750Delayed speech and language development0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12412902300189
HP:0000750HP:0000750Delayed speech and language development0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12512902300189
HP:0000750HP:0000750Delayed speech and language development0DMD CL E G H175698896ORPHA156012928300377
HP:0000750HP:0000750Delayed speech and language development0DMD CL E G H175698896ORPHA163952928300377
HP:0000750HP:0000750Delayed speech and language development0DNM1 CL E G H1759442835ORPHA14592972602377
HP:0000750HP:0000750Delayed speech and language development0DNM1 CL E G H1759442835ORPHA15062972602377
HP:0000750HP:0000750Delayed speech and language development0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0000750HP:0000750Delayed speech and language development0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806293948ORPHA13383012612779
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806293948ORPHA13403012612779
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0000750HP:0000750Delayed speech and language development0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0000750HP:0000750Delayed speech and language development0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0000750HP:0000750Delayed speech and language development0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000750HP:0000750Delayed speech and language development0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000750HP:0000750Delayed speech and language development0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000750HP:0000750Delayed speech and language development0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H1917442835ORPHA13823192602959
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H1917442835ORPHA14173192602959
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H934379113ORPHA128230858603892
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H934379113ORPHA131030858603892
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM128230858603892
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM131030858603892
HP:0000750HP:0000750Delayed speech and language development0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000750HP:0000750Delayed speech and language development0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000750HP:0000750Delayed speech and language development0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0000750HP:0000750Delayed speech and language development0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000750HP:0000750Delayed speech and language development0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000750HP:0000750Delayed speech and language development0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H5578075857ORPHA119121056615532
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H5578075857ORPHA122021056615532
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM119121056615532
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM122021056615532
HP:0000750HP:0000750Delayed speech and language development0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM111517097602238
HP:0000750HP:0000750Delayed speech and language development0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM115717097602238
HP:0000750HP:0000750Delayed speech and language development0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0000750HP:0000750Delayed speech and language development0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0000750HP:0000750Delayed speech and language development0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM115013590607871
HP:0000750HP:0000750Delayed speech and language development0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM129913590607871
HP:0000750HP:0000750Delayed speech and language development0FGF12 CL E G H2257442835ORPHA11273668601513
HP:0000750HP:0000750Delayed speech and language development0FGF12 CL E G H2257442835ORPHA11633668601513
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM15303688136350
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM15973688136350
HP:0000750HP:0000750Delayed speech and language development0FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0000750HP:0000750Delayed speech and language development0FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0000750HP:0000750Delayed speech and language development0FLII CL E G H2314819ORPHA11553750600362
HP:0000750HP:0000750Delayed speech and language development0FLII CL E G H2314819ORPHA11583750600362
HP:0000750HP:0000750Delayed speech and language development0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM118933754300017
HP:0000750HP:0000750Delayed speech and language development0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM121303754300017
HP:0000750HP:0000750Delayed speech and language development0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000750HP:0000750Delayed speech and language development0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000750HP:0000750Delayed speech and language development0FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM130013875605317
HP:0000750HP:0000750Delayed speech and language development0FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM130113875605317
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-linked309549C0796215OMIM121713254300499
HP:0000750HP:0000750Delayed speech and language development0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122313254300499
HP:0000750HP:0000750Delayed speech and language development0GABRB2 CL E G H2561442835ORPHA13214082600232
HP:0000750HP:0000750Delayed speech and language development0GABRB2 CL E G H2561442835ORPHA13584082600232
HP:0000750HP:0000750Delayed speech and language development0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11324116606953
HP:0000750HP:0000750Delayed speech and language development0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11414116606953
HP:0000750HP:0000750Delayed speech and language development0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM13904136601240
HP:0000750HP:0000750Delayed speech and language development0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14434136601240
HP:0000750HP:0000750Delayed speech and language development0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM12804175602360
HP:0000750HP:0000750Delayed speech and language development0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM13224175602360
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11304401604447
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11334401604447
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11304401604447
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H10681617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia617182C4310678OMIM11334401604447
HP:0000750HP:0000750Delayed speech and language development0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000750HP:0000750Delayed speech and language development0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000750HP:0000750Delayed speech and language development0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000750HP:0000750Delayed speech and language development0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000750HP:0000750Delayed speech and language development0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0000750HP:0000750Delayed speech and language development0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0000750HP:0000750Delayed speech and language development0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM112694585138253
HP:0000750HP:0000750Delayed speech and language development0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM114014585138253
HP:0000750HP:0000750Delayed speech and language development0GRIN2D CL E G H2906442835ORPHA11284588602717
HP:0000750HP:0000750Delayed speech and language development0GRIN2D CL E G H2906442835ORPHA13164588602717
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0000750HP:0000750Delayed speech and language development0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0000750HP:0000750Delayed speech and language development0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H348980442835ORPHA14454845602780
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H348980442835ORPHA15204845602780
HP:0000750HP:0000750Delayed speech and language development0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16024868605837
HP:0000750HP:0000750Delayed speech and language development0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16224868605837
HP:0000750HP:0000750Delayed speech and language development0HMGA2 CL E G H809194063ORPHA1245009600698
HP:0000750HP:0000750Delayed speech and language development0HMGA2 CL E G H809194063ORPHA1255009600698
HP:0000750HP:0000750Delayed speech and language development0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1375028605238
HP:0000750HP:0000750Delayed speech and language development0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1405028605238
HP:0000750HP:0000750Delayed speech and language development0HNRNPU CL E G H3192238769ORPHA14985048602869
HP:0000750HP:0000750Delayed speech and language development0HNRNPU CL E G H3192238769ORPHA15715048602869
HP:0000750HP:0000750Delayed speech and language development0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1315111142968
HP:0000750HP:0000750Delayed speech and language development0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000750HP:0000750Delayed speech and language development0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000750HP:0000750Delayed speech and language development0HUWE1 CL E G H1007585328ORPHA176130892300697
HP:0000750HP:0000750Delayed speech and language development0HUWE1 CL E G H1007585328ORPHA179330892300697
HP:0000750HP:0000750Delayed speech and language development0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM158730391607386
HP:0000750HP:0000750Delayed speech and language development0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM180530391607386
HP:0000750HP:0000750Delayed speech and language development0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16625465147370
HP:0000750HP:0000750Delayed speech and language development0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16805465147370
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM146621474613037
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM155921474613037
HP:0000750HP:0000750Delayed speech and language development0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13176109601491
HP:0000750HP:0000750Delayed speech and language development0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13186109601491
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096217377ORPHA175329059300522
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H23096217377ORPHA183229059300522
HP:0000750HP:0000750Delayed speech and language development0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000750HP:0000750Delayed speech and language development0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0000750HP:0000750Delayed speech and language development0KAT6B CL E G H2352285201ORPHA139617582605880
HP:0000750HP:0000750Delayed speech and language development0KAT6B CL E G H2352285201ORPHA148717582605880
HP:0000750HP:0000750Delayed speech and language development0KCNA2 CL E G H3737442835ORPHA12486220176262
HP:0000750HP:0000750Delayed speech and language development0KCNA2 CL E G H3737442835ORPHA12796220176262
HP:0000750HP:0000750Delayed speech and language development0KCNA4 CL E G H3739618284618284618284OMIM1316222176266
HP:0000750HP:0000750Delayed speech and language development0KCNB1 CL E G H3745442835ORPHA14016231600397
HP:0000750HP:0000750Delayed speech and language development0KCNB1 CL E G H3745442835ORPHA14526231600397
HP:0000750HP:0000750Delayed speech and language development0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0000750HP:0000750Delayed speech and language development0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13196256602208
HP:0000750HP:0000750Delayed speech and language development0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110018039605393
HP:0000750HP:0000750Delayed speech and language development0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110718039605393
HP:0000750HP:0000750Delayed speech and language development0KDM5C CL E G H824285279ORPHA148111114314690
HP:0000750HP:0000750Delayed speech and language development0KDM5C CL E G H824285279ORPHA150911114314690
HP:0000750HP:0000750Delayed speech and language development0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM114629508615759
HP:0000750HP:0000750Delayed speech and language development0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM122229508615759
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM16737132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM19747132159555
HP:0000750HP:0000750Delayed speech and language development0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM142213726606833
HP:0000750HP:0000750Delayed speech and language development0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM156413726606833
HP:0000750HP:0000750Delayed speech and language development0KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM17524283610881
HP:0000750HP:0000750Delayed speech and language development0KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM18324283610881
HP:0000750HP:0000750Delayed speech and language development0KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM131024054609173
HP:0000750HP:0000750Delayed speech and language development0L1CAM CL E G H38972466ORPHA16456470308840
HP:0000750HP:0000750Delayed speech and language development0L1CAM CL E G H38972466ORPHA16956470308840
HP:0000750HP:0000750Delayed speech and language development0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM122826058300060
HP:0000750HP:0000750Delayed speech and language development0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123526058300060
HP:0000750HP:0000750Delayed speech and language development0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM14716481150320
HP:0000750HP:0000750Delayed speech and language development0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM16266481150320
HP:0000750HP:0000750Delayed speech and language development0LEMD3 CL E G H2359294063ORPHA117828887607844
HP:0000750HP:0000750Delayed speech and language development0LEMD3 CL E G H2359294063ORPHA124628887607844
HP:0000750HP:0000750Delayed speech and language development0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM13886601601837
HP:0000750HP:0000750Delayed speech and language development0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM14676601601837
HP:0000750HP:0000750Delayed speech and language development0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0000750HP:0000750Delayed speech and language development0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0000750HP:0000750Delayed speech and language development0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0000750HP:0000750Delayed speech and language development0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM15576814605283
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM15806814605283
HP:0000750HP:0000750Delayed speech and language development0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1626891605789
HP:0000750HP:0000750Delayed speech and language development0MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000750HP:0000750Delayed speech and language development0MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000750HP:0000750Delayed speech and language development0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM12126946603294
HP:0000750HP:0000750Delayed speech and language development0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM15006946603294
HP:0000750HP:0000750Delayed speech and language development0MCTP2 CL E G H557841596ORPHA110325636616297
HP:0000750HP:0000750Delayed speech and language development0MCTP2 CL E G H557841596ORPHA110425636616297
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116036990300005
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116846990300005
HP:0000750HP:0000750Delayed speech and language development0MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000750HP:0000750Delayed speech and language development0MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000750HP:0000750Delayed speech and language development0MEIS2 CL E G H4212261190ORPHA1717001601740
HP:0000750HP:0000750Delayed speech and language development0MEIS2 CL E G H4212261190ORPHA1807001601740
HP:0000750HP:0000750Delayed speech and language development0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0000750HP:0000750Delayed speech and language development0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0000750HP:0000750Delayed speech and language development0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13417114603856
HP:0000750HP:0000750Delayed speech and language development0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13447114603856
HP:0000750HP:0000750Delayed speech and language development0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154502423ORPHA15929678617619
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154502423ORPHA16729678617619
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
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 15614947C3554182OMIM113229666611766
HP:0000750HP:0000750Delayed speech and language development0MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM116229666611766
HP:0000750HP:0000750Delayed speech and language development0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM114525532613669
HP:0000750HP:0000750Delayed speech and language development0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM118025532613669
HP:0000750HP:0000750Delayed speech and language development0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11647608604875
HP:0000750HP:0000750Delayed speech and language development0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11687608604875
HP:0000750HP:0000750Delayed speech and language development0MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM1761181608329
HP:0000750HP:0000750Delayed speech and language development0MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM1801181608329
HP:0000750HP:0000750Delayed speech and language development0MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM13207623613084
HP:0000750HP:0000750Delayed speech and language development0MYT1L CL E G H23040616521Mental retardation, autosomal dominant 39616521C4225296OMIM13357623613084
HP:0000750HP:0000750Delayed speech and language development0NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM113030782608000
HP:0000750HP:0000750Delayed speech and language development0NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM114330782608000
HP:0000750HP:0000750Delayed speech and language development0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM157319082611549
HP:0000750HP:0000750Delayed speech and language development0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM159019082611549
HP:0000750HP:0000750Delayed speech and language development0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13217675602117
HP:0000750HP:0000750Delayed speech and language development0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13267675602117
HP:0000750HP:0000750Delayed speech and language development0NECAP1 CL E G H25977442835ORPHA110224539611623
HP:0000750HP:0000750Delayed speech and language development0NECAP1 CL E G H25977442835ORPHA114424539611623
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM180607765613113
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM191517765613113
HP:0000750HP:0000750Delayed speech and language development0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM1707782600492
HP:0000750HP:0000750Delayed speech and language development0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11067782600492
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM12147788164005
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM12307788164005
HP:0000750HP:0000750Delayed speech and language development0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0000750HP:0000750Delayed speech and language development0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0000750HP:0000750Delayed speech and language development0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM136114287300427
HP:0000750HP:0000750Delayed speech and language development0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM137014287300427
HP:0000750HP:0000750Delayed speech and language development0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13491190610922
HP:0000750HP:0000750Delayed speech and language development0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13511190610922
HP:0000750HP:0000750Delayed speech and language development0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0000750HP:0000750Delayed speech and language development0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0000750HP:0000750Delayed speech and language development0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM138625994610916
HP:0000750HP:0000750Delayed speech and language development0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM140125994610916
HP:0000750HP:0000750Delayed speech and language development0NTRK2 CL E G H4915442835ORPHA11168032600456
HP:0000750HP:0000750Delayed speech and language development0NTRK2 CL E G H4915442835ORPHA12028032600456
HP:0000750HP:0000750Delayed speech and language development0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM112829914607617
HP:0000750HP:0000750Delayed speech and language development0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM113429914607617
HP:0000750HP:0000750Delayed speech and language development0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0000750HP:0000750Delayed speech and language development0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H116150442835ORPHA18621042610463
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H116150442835ORPHA114321042610463
HP:0000750HP:0000750Delayed speech and language development0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0000750HP:0000750Delayed speech and language development0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0000750HP:0000750Delayed speech and language development0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM17818028610107
HP:0000750HP:0000750Delayed speech and language development0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM19518028610107
HP:0000750HP:0000750Delayed speech and language development0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM121930032607492
HP:0000750HP:0000750Delayed speech and language development0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM124530032607492
HP:0000750HP:0000750Delayed speech and language development0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM115423794610423
HP:0000750HP:0000750Delayed speech and language development0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129823794610423
HP:0000750HP:0000750Delayed speech and language development0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12648592300142
HP:0000750HP:0000750Delayed speech and language development0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12728592300142
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 DELAY617641C4539968OMIM1548632176310
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 DELAY617641C4539968OMIM1568632176310
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144280651ORPHA13308783600129
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144280651ORPHA13548783600129
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13308783600129
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13548783600129
HP:0000750HP:0000750Delayed speech and language development0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM17938850602136
HP:0000750HP:0000750Delayed speech and language development0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM19518850602136
HP:0000750HP:0000750Delayed speech and language development0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12288896311800
HP:0000750HP:0000750Delayed speech and language development0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12458896311800
HP:0000750HP:0000750Delayed speech and language development0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM124020672300560
HP:0000750HP:0000750Delayed speech and language development0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM124720672300560
HP:0000750HP:0000750Delayed speech and language development0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM157225985616918
HP:0000750HP:0000750Delayed speech and language development0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM172925985616918
HP:0000750HP:0000750Delayed speech and language development0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM163723215614730
HP:0000750HP:0000750Delayed speech and language development0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM173223215614730
HP:0000750HP:0000750Delayed speech and language development0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0000750HP:0000750Delayed speech and language development0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0000750HP:0000750Delayed speech and language development0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM12628979171833
HP:0000750HP:0000750Delayed speech and language development0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13078979171833
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0000750HP:0000750Delayed speech and language development0PLAA CL E G H9373521426ORPHA1969043603873
HP:0000750HP:0000750Delayed speech and language development0PLAA CL E G H9373521426ORPHA12229043603873
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H232031170ORPHA112818667613036
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H232031170ORPHA113418667613036
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0000750HP:0000750Delayed speech and language development0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0000750HP:0000750Delayed speech and language development0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0000750HP:0000750Delayed speech and language development0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1889282600590
HP:0000750HP:0000750Delayed speech and language development0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1979282600590
HP:0000750HP:0000750Delayed speech and language development0PPP3CA CL E G H5530442835ORPHA1679314114105
HP:0000750HP:0000750Delayed speech and language development0PPP3CA CL E G H5530442835ORPHA11359314114105
HP:0000750HP:0000750Delayed speech and language development0PRKAR1A CL E G H5573280651ORPHA16239388188830
HP:0000750HP:0000750Delayed speech and language development0PRKAR1A CL E G H5573280651ORPHA17259388188830
HP:0000750HP:0000750Delayed speech and language development0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1829407605435
HP:0000750HP:0000750Delayed speech and language development0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1839407605435
HP:0000750HP:0000750Delayed speech and language development0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0000750HP:0000750Delayed speech and language development0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0000750HP:0000750Delayed speech and language development0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM19825557610087
HP:0000750HP:0000750Delayed speech and language development0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM111325557610087
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718529962ORPHA1469557604450
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718529962ORPHA1479557604450
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1469557604450
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1479557604450
HP:0000750HP:0000750Delayed speech and language development0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0000750HP:0000750Delayed speech and language development0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0000750HP:0000750Delayed speech and language development0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131730089600161
HP:0000750HP:0000750Delayed speech and language development0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131930089600161
HP:0000750HP:0000750Delayed speech and language development0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132833235611215
HP:0000750HP:0000750Delayed speech and language development0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132933235611215
HP:0000750HP:0000750Delayed speech and language development0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM11749721179035
HP:0000750HP:0000750Delayed speech and language development0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM11939721179035
HP:0000750HP:0000750Delayed speech and language development0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM13824713617387
HP:0000750HP:0000750Delayed speech and language development0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM16224713617387
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743819ORPHA15159834607642
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743819ORPHA18069834607642
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0000750HP:0000750Delayed speech and language development0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM12615578614825
HP:0000750HP:0000750Delayed speech and language development0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM15015578614825
HP:0000750HP:0000750Delayed speech and language development0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0000750HP:0000750Delayed speech and language development0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0000750HP:0000750Delayed speech and language development0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM17621150610432
HP:0000750HP:0000750Delayed speech and language development0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM18021150610432
HP:0000750HP:0000750Delayed speech and language development0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM16510258600825
HP:0000750HP:0000750Delayed speech and language development0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM16810258600825
HP:0000750HP:0000750Delayed speech and language development0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125410298312173
HP:0000750HP:0000750Delayed speech and language development0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125910298312173
HP:0000750HP:0000750Delayed speech and language development0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM138310432300075
HP:0000750HP:0000750Delayed speech and language development0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM140410432300075
HP:0000750HP:0000750Delayed speech and language development0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM157518654610436
HP:0000750HP:0000750Delayed speech and language development0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM171918654610436
HP:0000750HP:0000750Delayed speech and language development0RUBCN CL E G H9711404499ORPHA111428991613516
HP:0000750HP:0000750Delayed speech and language development0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0000750HP:0000750Delayed speech and language development0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0000750HP:0000750Delayed speech and language development0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314251019ORPHA142821637608148
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314251019ORPHA147721637608148
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM142821637608148
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM147721637608148
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H6328442835ORPHA174210590182391
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H6328442835ORPHA189710590182391
HP:0000750HP:0000750Delayed speech and language development0SCN8A CL E G H6334442835ORPHA1111910596600702
HP:0000750HP:0000750Delayed speech and language development0SCN8A CL E G H6334442835ORPHA1128510596600702
HP:0000750HP:0000750Delayed speech and language development0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM18210760600960
HP:0000750HP:0000750Delayed speech and language development0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM18510760600960
HP:0000750HP:0000750Delayed speech and language development0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0000750HP:0000750Delayed speech and language development0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0000750HP:0000750Delayed speech and language development0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM141825566615743
HP:0000750HP:0000750Delayed speech and language development0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM149225566615743
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262245ORPHA17910771605593
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262245ORPHA18210771605593
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM17910771605593
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18210771605593
HP:0000750HP:0000750Delayed speech and language development0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM114616088615564
HP:0000750HP:0000750Delayed speech and language development0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM115016088615564
HP:0000750HP:0000750Delayed speech and language development0SGCB CL E G H6443119ORPHA132710806600900
HP:0000750HP:0000750Delayed speech and language development0SGCB CL E G H6443119ORPHA137410806600900
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H25970329249ORPHA117530417608937
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H25970329249ORPHA118930417608937
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535848652ORPHA161714294606230
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535848652ORPHA163814294606230
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM161714294606230
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM163814294606230
HP:0000750HP:0000750Delayed speech and language development0SIM1 CL E G H6492171829ORPHA114010882603128
HP:0000750HP:0000750Delayed speech and language development0SIM1 CL E G H6492171829ORPHA114910882603128
HP:0000750HP:0000750Delayed speech and language development0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000750HP:0000750Delayed speech and language development0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000750HP:0000750Delayed speech and language development0SLC13A5 CL E G H284111442835ORPHA143523089608305
HP:0000750HP:0000750Delayed speech and language development0SLC13A5 CL E G H284111442835ORPHA149123089608305
HP:0000750HP:0000750Delayed speech and language development0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0000750HP:0000750Delayed speech and language development0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0000750HP:0000750Delayed speech and language development0SLC1A2 CL E G H6506442835ORPHA17210940600300
HP:0000750HP:0000750Delayed speech and language development0SLC1A2 CL E G H6506442835ORPHA113310940600300
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651371277ORPHA167211005138140
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651371277ORPHA175311005138140
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM167211005138140
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM175311005138140
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM171611055300036
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM177011055300036
HP:0000750HP:0000750Delayed speech and language development0SMC1A CL E G H8243319182ORPHA163511111300040
HP:0000750HP:0000750Delayed speech and language development0SMC1A CL E G H8243319182ORPHA169011111300040
HP:0000750HP:0000750Delayed speech and language development0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131933020609837
HP:0000750HP:0000750Delayed speech and language development0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM132133020609837
HP:0000750HP:0000750Delayed speech and language development0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM132033067605436
HP:0000750HP:0000750Delayed speech and language development0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM132133067605436
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139711164182279
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139811164182279
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139711164182279
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139811164182279
HP:0000750HP:0000750Delayed speech and language development0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM18329256613667
HP:0000750HP:0000750Delayed speech and language development0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM18629256613667
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660313892ORPHA117111201604975
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660313892ORPHA118211201604975
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM117111201604975
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM118211201604975
HP:0000750HP:0000750Delayed speech and language development0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM16311219182120
HP:0000750HP:0000750Delayed speech and language development0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM18611219182120
HP:0000750HP:0000750Delayed speech and language development0SPART CL E G H23111101000ORPHA121518514607111
HP:0000750HP:0000750Delayed speech and language development0SPART CL E G H23111101000ORPHA124618514607111
HP:0000750HP:0000750Delayed speech and language development0SPR CL E G H669770594ORPHA112811257182125
HP:0000750HP:0000750Delayed speech and language development0SPR CL E G H669770594ORPHA114511257182125
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712352403ORPHA147811276604985
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712352403ORPHA156911276604985
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM147811276604985
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM156911276604985
HP:0000750HP:0000750Delayed speech and language development0STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM19811354604358
HP:0000750HP:0000750Delayed speech and language development0STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM110511354604358
HP:0000750HP:0000750Delayed speech and language development0STXBP1 CL E G H6812442835ORPHA171411444602926
HP:0000750HP:0000750Delayed speech and language development0STXBP1 CL E G H6812442835ORPHA177911444602926
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H8831442835ORPHA182811497603384
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H8831442835ORPHA192811497603384
HP:0000750HP:0000750Delayed speech and language development0SYNJ1 CL E G H8867442835ORPHA173011503604297
HP:0000750HP:0000750Delayed speech and language development0SYNJ1 CL E G H8867442835ORPHA190911503604297
HP:0000750HP:0000750Delayed speech and language development0SZT2 CL E G H23334442835ORPHA1165229040615463
HP:0000750HP:0000750Delayed speech and language development0SZT2 CL E G H23334442835ORPHA1196729040615463
HP:0000750HP:0000750Delayed speech and language development0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0000750HP:0000750Delayed speech and language development0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0000750HP:0000750Delayed speech and language development0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM19021066612655
HP:0000750HP:0000750Delayed speech and language development0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM19821066612655
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H68991727ORPHA172111592602054
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H68991727ORPHA180411592602054
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000750HP:0000750Delayed speech and language development0TBX4 CL E G H9496261279ORPHA116111603601719
HP:0000750HP:0000750Delayed speech and language development0TBX4 CL E G H9496261279ORPHA123411603601719
HP:0000750HP:0000750Delayed speech and language development0TECR CL E G H9524614020Mental retardation, autosomal recessive 14614020C3151462OMIM1404551610057
HP:0000750HP:0000750Delayed speech and language development0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM13418345611357
HP:0000750HP:0000750Delayed speech and language development0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM13518345611357
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054101150ORPHA155011782191290
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054101150ORPHA165511782191290
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0000750HP:0000750Delayed speech and language development0THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM131711799190160
HP:0000750HP:0000750Delayed speech and language development0THRB CL E G H7068188570Thyroid hormone resistance, generalized, autosomal dominant188570C2937288OMIM132211799190160
HP:0000750HP:0000750Delayed speech and language development0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM123011824604319
HP:0000750HP:0000750Delayed speech and language development0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM128811824604319
HP:0000750HP:0000750Delayed speech and language development0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM19911842608439
HP:0000750HP:0000750Delayed speech and language development0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM110511842608439
HP:0000750HP:0000750Delayed speech and language development0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM16222407613413
HP:0000750HP:0000750Delayed speech and language development0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM17422407613413
HP:0000750HP:0000750Delayed speech and language development0TMEM94 CL E G H9772618316618316618316OMIM14628983618163
HP:0000750HP:0000750Delayed speech and language development0TMEM94 CL E G H9772618316618316618316OMIM15328983618163
HP:0000750HP:0000750Delayed speech and language development0TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM15530765610005
HP:0000750HP:0000750Delayed speech and language development0TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM16230765610005
HP:0000750HP:0000750Delayed speech and language development0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM13616197608679
HP:0000750HP:0000750Delayed speech and language development0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM13716197608679
HP:0000750HP:0000750Delayed speech and language development0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM16452073607998
HP:0000750HP:0000750Delayed speech and language development0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM17452073607998
HP:0000750HP:0000750Delayed speech and language development0TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM118526894613354
HP:0000750HP:0000750Delayed speech and language development0TPRN CL E G H286262613307Deafness, autosomal recessive 79613307C2750082OMIM121626894613354
HP:0000750HP:0000750Delayed speech and language development0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM17820456606692
HP:0000750HP:0000750Delayed speech and language development0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM18320456606692
HP:0000750HP:0000750Delayed speech and language development0TRAK1 CL E G H22906442835ORPHA14029947608112
HP:0000750HP:0000750Delayed speech and language development0TRAK1 CL E G H22906442835ORPHA17129947608112
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM179212303601893
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM182412303601893
HP:0000750HP:0000750Delayed speech and language development0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM119112306604506
HP:0000750HP:0000750Delayed speech and language development0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM120712306604506
HP:0000750HP:0000750Delayed speech and language development0TRMT1 CL E G H55621618302618302618302OMIM16025980611669
HP:0000750HP:0000750Delayed speech and language development0TRMT1 CL E G H55621618302618302618302OMIM16525980611669
HP:0000750HP:0000750Delayed speech and language development0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120312373603372
HP:0000750HP:0000750Delayed speech and language development0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120412373603372
HP:0000750HP:0000750Delayed speech and language development0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM19626262614426
HP:0000750HP:0000750Delayed speech and language development0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM110326262614426
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM17120778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM17520778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM17120778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM17520778191130
HP:0000750HP:0000750Delayed speech and language development0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM116820774602662
HP:0000750HP:0000750Delayed speech and language development0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM118120774602662
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM19220670607556
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM19920670607556
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19220670607556
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19920670607556
HP:0000750HP:0000750Delayed speech and language development0UBA5 CL E G H79876442835ORPHA15823230610552
HP:0000750HP:0000750Delayed speech and language development0UBA5 CL E G H79876442835ORPHA110923230610552
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H7337238446ORPHA189712496601623
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H7337238446ORPHA194812496601623
HP:0000750HP:0000750Delayed speech and language development0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM149312632300072
HP:0000750HP:0000750Delayed speech and language development0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM151412632300072
HP:0000750HP:0000750Delayed speech and language development0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM111825507604632
HP:0000750HP:0000750Delayed speech and language development0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM116225507604632
HP:0000750HP:0000750Delayed speech and language development0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM146112698192977
HP:0000750HP:0000750Delayed speech and language development0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM147712698192977
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492319199ORPHA117324928609927
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492319199ORPHA118824928609927
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM117324928609927
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM118824928609927
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM117617327615049
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM118817327615049
HP:0000750HP:0000750Delayed speech and language development0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM152424502613583
HP:0000750HP:0000750Delayed speech and language development0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM161524502613583
HP:0000750HP:0000750Delayed speech and language development0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM124826600614218
HP:0000750HP:0000750Delayed speech and language development0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM125626600614218
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741284282ORPHA176712799605131
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741284282ORPHA187912799605131
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741442835ORPHA176712799605131
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H51741442835ORPHA187912799605131
HP:0000750HP:0000750Delayed speech and language development0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM15412831194363
HP:0000750HP:0000750Delayed speech and language development0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM16812831194363
HP:0000750HP:0000750Delayed speech and language development0YWHAG CL E G H7532442835ORPHA15912852605356
HP:0000750HP:0000750Delayed speech and language development0YWHAG CL E G H7532442835ORPHA17812852605356
HP:0000750HP:0000750Delayed speech and language development0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17212856600013
HP:0000750HP:0000750Delayed speech and language development0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17912856600013
HP:0000750HP:0000750Delayed speech and language development0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0000750HP:0000750Delayed speech and language development0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0000750HP:0000750Delayed speech and language development0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM114316966608668
HP:0000750HP:0000750Delayed speech and language development0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM115616966608668
HP:0000750HP:0000750Delayed speech and language development0ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM125013128314990
HP:0000750HP:0000750Delayed speech and language development0ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM125513128314990
HP:0000750HP:0001344Absent speech1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0002474Expressive language delay1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0010863Receptive language delay1AARS CL E G H16442835ORPHA120601065
HP:0000750HP:0001344Absent speech1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000750HP:0001344Absent speech1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000750HP:0002474Expressive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000750HP:0002474Expressive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000750HP:0010863Receptive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000750HP:0010863Receptive language delay1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000750HP:0001344Absent speech1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0000750HP:0001344Absent speech1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0000750HP:0002474Expressive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0000750HP:0002474Expressive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0000750HP:0010863Receptive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0000750HP:0010863Receptive language delay1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0000750HP:0001344Absent speech1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000750HP:0001344Absent speech1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000750HP:0002474Expressive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000750HP:0002474Expressive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000750HP:0010863Receptive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000750HP:0010863Receptive language delay1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000750HP:0001344Absent speech1ADAR CL E G H103225154ORPHA1471225146920
HP:0000750HP:0001344Absent speech1ADAR CL E G H103225154ORPHA1654225146920
HP:0000750HP:0002474Expressive language delay1ADAR CL E G H103225154ORPHA1471225146920
HP:0000750HP:0002474Expressive language delay1ADAR CL E G H103225154ORPHA1654225146920
HP:0000750HP:0010863Receptive language delay1ADAR CL E G H103225154ORPHA1471225146920
HP:0000750HP:0010863Receptive language delay1ADAR CL E G H103225154ORPHA1654225146920
HP:0000750HP:0001344Absent speech1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0000750HP:0001344Absent speech1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0000750HP:0002474Expressive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0000750HP:0002474Expressive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0000750HP:0010863Receptive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0000750HP:0010863Receptive language delay1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0000750HP:0001344Absent speech1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000750HP:0001344Absent speech1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000750HP:0002474Expressive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000750HP:0002474Expressive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000750HP:0010863Receptive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000750HP:0010863Receptive language delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000750HP:0001344Absent speech1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13413776300806
HP:0000750HP:0001344Absent speech1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13493776300806
HP:0000750HP:0002474Expressive language delay1AFF2 CL E G H233