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

 Sister Nodes: 
..expandDelayed social development (HP:0012434) help
..expandGlobal developmental delay (HP:0001263) help
..expandMotor delay (HP:0001270) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000750HP:0000750Delayed speech and language development0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0000750HP:0000750Delayed speech and language development0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0000750HP:0000750Delayed speech and language development0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0000750HP:0000750Delayed speech and language development0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional58
HP:0000750HP:0000750Delayed speech and language development0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0000750HP:0000750Delayed speech and language development0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0000750HP:0000750Delayed speech and language development0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional90
HP:0000750HP:0000750Delayed speech and language development0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000750HP:0000750Delayed speech and language development0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0000750HP:0000750Delayed speech and language development0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0000750HP:0000750Delayed speech and language development0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0000750HP:0000750Delayed speech and language development0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0000750HP:0000750Delayed speech and language development0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0000750HP:0000750Delayed speech and language development0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0000750HP:0000750Delayed speech and language development0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0000750HP:0000750Delayed speech and language development0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0000750HP:0000750Delayed speech and language development0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000750HP:0000750Delayed speech and language development0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0000750HP:0000750Delayed speech and language development0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0000750HP:0000750Delayed speech and language development0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0000750HP:0000750Delayed speech and language development0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0000750HP:0000750Delayed speech and language development0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0000750HP:0000750Delayed speech and language development0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000750HP:0000750Delayed speech and language development0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0000750HP:0000750Delayed speech and language development0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040281 - Very frequent47
HP:0000750HP:0000750Delayed speech and language development0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000750HP:0000750Delayed speech and language development0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiency118
HP:0000750HP:0000750Delayed speech and language development0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000750HP:0000750Delayed speech and language development0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0000750HP:0000750Delayed speech and language development0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000750HP:0000750Delayed speech and language development0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000750HP:0000750Delayed speech and language development0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000750HP:0000750Delayed speech and language development0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040281 - Very frequent36
HP:0000750HP:0000750Delayed speech and language development0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000750HP:0000750Delayed speech and language development0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040281 - Very frequent60
HP:0000750HP:0000750Delayed speech and language development0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0000750HP:0000750Delayed speech and language development0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0000750HP:0000750Delayed speech and language development0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0000750HP:0000750Delayed speech and language development0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040282 - Frequent74
HP:0000750HP:0000750Delayed speech and language development0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0000750HP:0000750Delayed speech and language development0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0000750HP:0000750Delayed speech and language development0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0000750HP:0000750Delayed speech and language development0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0000750HP:0000750Delayed speech and language development0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0000750HP:0000750Delayed speech and language development0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0000750HP:0000750Delayed speech and language development0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000750HP:0000750Delayed speech and language development0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000750HP:0000750Delayed speech and language development0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000750HP:0000750Delayed speech and language development0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000750HP:0000750Delayed speech and language development0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000750HP:0000750Delayed speech and language development0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0000750HP:0000750Delayed speech and language development0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0000750HP:0000750Delayed speech and language development0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37176
HP:0000750HP:0000750Delayed speech and language development0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000750HP:0000750Delayed speech and language development0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000750HP:0000750Delayed speech and language development0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000750HP:0000750Delayed speech and language development0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000750HP:0000750Delayed speech and language development0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000750HP:0000750Delayed speech and language development0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0000750HP:0000750Delayed speech and language development0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000750HP:0000750Delayed speech and language development0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0000750HP:0000750Delayed speech and language development0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0000750HP:0000750Delayed speech and language development0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8.
HP:0000750HP:0000750Delayed speech and language development0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0000750HP:0000750Delayed speech and language development0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0000750HP:0000750Delayed speech and language development0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000750HP:0000750Delayed speech and language development0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0000750HP:0000750Delayed speech and language development0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0000750HP:0000750Delayed speech and language development0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0000750HP:0000750Delayed speech and language development0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000750HP:0000750Delayed speech and language development0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0000750HP:0000750Delayed speech and language development0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0000750HP:0000750Delayed speech and language development0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000750HP:0000750Delayed speech and language development0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000750HP:0000750Delayed speech and language development0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0000750HP:0000750Delayed speech and language development0ARPC4 CL E G H10093707OMIM:620141
HP:0000750HP:0000750Delayed speech and language development0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0ARX CL E G H17030218060OMIM:309510Partington syndrome.166
HP:0000750HP:0000750Delayed speech and language development0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040283 - Occasional166
HP:0000750HP:0000750Delayed speech and language development0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000750HP:0000750Delayed speech and language development0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040283 - Occasional48
HP:0000750HP:0000750Delayed speech and language development0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0000750HP:0000750Delayed speech and language development0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000750HP:0000750Delayed speech and language development0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000750HP:0000750Delayed speech and language development0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000750HP:0000750Delayed speech and language development0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000750HP:0000750Delayed speech and language development0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000750HP:0000750Delayed speech and language development0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000750HP:0000750Delayed speech and language development0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000750HP:0000750Delayed speech and language development0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000750HP:0000750Delayed speech and language development0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000750HP:0000750Delayed speech and language development0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0000750HP:0000750Delayed speech and language development0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0000750HP:0000750Delayed speech and language development0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000750HP:0000750Delayed speech and language development0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0000750HP:0000750Delayed speech and language development0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0000750HP:0000750Delayed speech and language development0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0000750HP:0000750Delayed speech and language development0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0000750HP:0000750Delayed speech and language development0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0000750HP:0000750Delayed speech and language development0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000750HP:0000750Delayed speech and language development0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0000750HP:0000750Delayed speech and language development0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0000750HP:0000750Delayed speech and language development0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040282 - Frequent49
HP:0000750HP:0000750Delayed speech and language development0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0000750HP:0000750Delayed speech and language development0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040281 - Very frequent61
HP:0000750HP:0000750Delayed speech and language development0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000750HP:0000750Delayed speech and language development0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000750HP:0000750Delayed speech and language development0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000750HP:0000750Delayed speech and language development0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000750HP:0000750Delayed speech and language development0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000750HP:0000750Delayed speech and language development0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000750HP:0000750Delayed speech and language development0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0000750HP:0000750Delayed speech and language development0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000750HP:0000750Delayed speech and language development0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000750HP:0000750Delayed speech and language development0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000750HP:0000750Delayed speech and language development0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0000750HP:0000750Delayed speech and language development0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0000750HP:0000750Delayed speech and language development0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000750HP:0000750Delayed speech and language development0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0000750HP:0000750Delayed speech and language development0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000750HP:0000750Delayed speech and language development0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000750HP:0000750Delayed speech and language development0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000750HP:0000750Delayed speech and language development0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000750HP:0000750Delayed speech and language development0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000750HP:0000750Delayed speech and language development0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0000750HP:0000750Delayed speech and language development0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0000750HP:0000750Delayed speech and language development0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0000750HP:0000750Delayed speech and language development0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000750HP:0000750Delayed speech and language development0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000750HP:0000750Delayed speech and language development0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000750HP:0000750Delayed speech and language development0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0000750HP:0000750Delayed speech and language development0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0000750HP:0000750Delayed speech and language development0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0000750HP:0000750Delayed speech and language development0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0000750HP:0000750Delayed speech and language development0CACNA1C CL E G H7751390OMIM:620029572
HP:0000750HP:0000750Delayed speech and language development0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0000750HP:0000750Delayed speech and language development0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0000750HP:0000750Delayed speech and language development0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0000750HP:0000750Delayed speech and language development0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000750HP:0000750Delayed speech and language development0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0000750HP:0000750Delayed speech and language development0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000750HP:0000750Delayed speech and language development0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000750HP:0000750Delayed speech and language development0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000750HP:0000750Delayed speech and language development0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000750HP:0000750Delayed speech and language development0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0000750HP:0000750Delayed speech and language development0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000750HP:0000750Delayed speech and language development0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0000750HP:0000750Delayed speech and language development0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0000750HP:0000750Delayed speech and language development0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000750HP:0000750Delayed speech and language development0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0000750HP:0000750Delayed speech and language development0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional36
HP:0000750HP:0000750Delayed speech and language development0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000750HP:0000750Delayed speech and language development0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000750HP:0000750Delayed speech and language development0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional126
HP:0000750HP:0000750Delayed speech and language development0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional182
HP:0000750HP:0000750Delayed speech and language development0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0000750HP:0000750Delayed speech and language development0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0000750HP:0000750Delayed speech and language development0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0000750HP:0000750Delayed speech and language development0CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 311
HP:0000750HP:0000750Delayed speech and language development0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0000750HP:0000750Delayed speech and language development0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000750HP:0000750Delayed speech and language development0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000750HP:0000750Delayed speech and language development0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0000750HP:0000750Delayed speech and language development0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000750HP:0000750Delayed speech and language development0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000750HP:0000750Delayed speech and language development0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent114
HP:0000750HP:0000750Delayed speech and language development0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000750HP:0000750Delayed speech and language development0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000750HP:0000750Delayed speech and language development0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000750HP:0000750Delayed speech and language development0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000750HP:0000750Delayed speech and language development0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0000750HP:0000750Delayed speech and language development0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000750HP:0000750Delayed speech and language development0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0000750HP:0000750Delayed speech and language development0CEP63 CL E G H8025425815OMIM:614728Seckel syndrome 6.31
HP:0000750HP:0000750Delayed speech and language development0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0000750HP:0000750Delayed speech and language development0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0000750HP:0000750Delayed speech and language development0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000750HP:0000750Delayed speech and language development0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000750HP:0000750Delayed speech and language development0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000750HP:0000750Delayed speech and language development0CHD5 CL E G H2603816816OMIM:619873
HP:0000750HP:0000750Delayed speech and language development0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000750HP:0000750Delayed speech and language development0CHKA CL E G H11191937OMIM:620023
HP:0000750HP:0000750Delayed speech and language development0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0000750HP:0000750Delayed speech and language development0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000750HP:0000750Delayed speech and language development0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000750HP:0000750Delayed speech and language development0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000750HP:0000750Delayed speech and language development0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000750HP:0000750Delayed speech and language development0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0000750HP:0000750Delayed speech and language development0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0000750HP:0000750Delayed speech and language development0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0000750HP:0000750Delayed speech and language development0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0000750HP:0000750Delayed speech and language development0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0000750HP:0000750Delayed speech and language development0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0000750HP:0000750Delayed speech and language development0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040281 - Very frequent7
HP:0000750HP:0000750Delayed speech and language development0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0000750HP:0000750Delayed speech and language development0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0000750HP:0000750Delayed speech and language development0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000750HP:0000750Delayed speech and language development0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000750HP:0000750Delayed speech and language development0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0000750HP:0000750Delayed speech and language development0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation47
HP:0000750HP:0000750Delayed speech and language development0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0000750HP:0000750Delayed speech and language development0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000750HP:0000750Delayed speech and language development0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000750HP:0000750Delayed speech and language development0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0000750HP:0000750Delayed speech and language development0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0000750HP:0000750Delayed speech and language development0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0000750HP:0000750Delayed speech and language development0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000750HP:0000750Delayed speech and language development0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040281 - Very frequent79
HP:0000750HP:0000750Delayed speech and language development0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0000750HP:0000750Delayed speech and language development0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0000750HP:0000750Delayed speech and language development0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0000750HP:0000750Delayed speech and language development0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000750HP:0000750Delayed speech and language development0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndromeHP:0040284 - Very rare749
HP:0000750HP:0000750Delayed speech and language development0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000750HP:0000750Delayed speech and language development0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0000750HP:0000750Delayed speech and language development0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0000750HP:0000750Delayed speech and language development0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0000750HP:0000750Delayed speech and language development0CRADD CL E G H87382340OMIM:614499Mental retardation, autosomal recessive 34, with variant lissencephaly.6
HP:0000750HP:0000750Delayed speech and language development0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0000750HP:0000750Delayed speech and language development0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040281 - Very frequent291
HP:0000750HP:0000750Delayed speech and language development0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0000750HP:0000750Delayed speech and language development0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000750HP:0000750Delayed speech and language development0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000750HP:0000750Delayed speech and language development0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0000750HP:0000750Delayed speech and language development0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000750HP:0000750Delayed speech and language development0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0000750HP:0000750Delayed speech and language development0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0000750HP:0000750Delayed speech and language development0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000750HP:0000750Delayed speech and language development0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000750HP:0000750Delayed speech and language development0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0000750HP:0000750Delayed speech and language development0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040282 - Frequent4
HP:0000750HP:0000750Delayed speech and language development0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000750HP:0000750Delayed speech and language development0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0000750HP:0000750Delayed speech and language development0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000750HP:0000750Delayed speech and language development0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0000750HP:0000750Delayed speech and language development0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0000750HP:0000750Delayed speech and language development0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0000750HP:0000750Delayed speech and language development0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000750HP:0000750Delayed speech and language development0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0000750HP:0000750Delayed speech and language development0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0000750HP:0000750Delayed speech and language development0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome5
HP:0000750HP:0000750Delayed speech and language development0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder33
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0000750HP:0000750Delayed speech and language development0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000750HP:0000750Delayed speech and language development0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0000750HP:0000750Delayed speech and language development0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 496
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities.47
HP:0000750HP:0000750Delayed speech and language development0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0000750HP:0000750Delayed speech and language development0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000750HP:0000750Delayed speech and language development0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000750HP:0000750Delayed speech and language development0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0000750HP:0000750Delayed speech and language development0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000750HP:0000750Delayed speech and language development0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000750HP:0000750Delayed speech and language development0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000750HP:0000750Delayed speech and language development0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000750HP:0000750Delayed speech and language development0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0000750HP:0000750Delayed speech and language development0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000750HP:0000750Delayed speech and language development0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000750HP:0000750Delayed speech and language development0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000750HP:0000750Delayed speech and language development0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000750HP:0000750Delayed speech and language development0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000750HP:0000750Delayed speech and language development0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0000750HP:0000750Delayed speech and language development0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0000750HP:0000750Delayed speech and language development0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000750HP:0000750Delayed speech and language development0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional116
HP:0000750HP:0000750Delayed speech and language development0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional78
HP:0000750HP:0000750Delayed speech and language development0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional63
HP:0000750HP:0000750Delayed speech and language development0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional27
HP:0000750HP:0000750Delayed speech and language development0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional62
HP:0000750HP:0000750Delayed speech and language development0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0000750HP:0000750Delayed speech and language development0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional542
HP:0000750HP:0000750Delayed speech and language development0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional527
HP:0000750HP:0000750Delayed speech and language development0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional18
HP:0000750HP:0000750Delayed speech and language development0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional73
HP:0000750HP:0000750Delayed speech and language development0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional104
HP:0000750HP:0000750Delayed speech and language development0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional2
HP:0000750HP:0000750Delayed speech and language development0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0000750HP:0000750Delayed speech and language development0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional167
HP:0000750HP:0000750Delayed speech and language development0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 3172
HP:0000750HP:0000750Delayed speech and language development0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0000750HP:0000750Delayed speech and language development0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0000750HP:0000750Delayed speech and language development0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000750HP:0000750Delayed speech and language development0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0000750HP:0000750Delayed speech and language development0DOHH CL E G H8347528662OMIM:620066
HP:0000750HP:0000750Delayed speech and language development0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000750HP:0000750Delayed speech and language development0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000750HP:0000750Delayed speech and language development0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0000750HP:0000750Delayed speech and language development0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000750HP:0000750Delayed speech and language development0DPH5 CL E G H5161124270OMIM:620070
HP:0000750HP:0000750Delayed speech and language development0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040282 - Frequent144
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000750HP:0000750Delayed speech and language development0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0000750HP:0000750Delayed speech and language development0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0000750HP:0000750Delayed speech and language development0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000750HP:0000750Delayed speech and language development0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional44
HP:0000750HP:0000750Delayed speech and language development0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0000750HP:0000750Delayed speech and language development0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O427
HP:0000750HP:0000750Delayed speech and language development0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000750HP:0000750Delayed speech and language development0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactylyHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000750HP:0000750Delayed speech and language development0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040281 - Very frequent134
HP:0000750HP:0000750Delayed speech and language development0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000750HP:0000750Delayed speech and language development0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0000750HP:0000750Delayed speech and language development0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000750HP:0000750Delayed speech and language development0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0000750HP:0000750Delayed speech and language development0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000750HP:0000750Delayed speech and language development0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0000750HP:0000750Delayed speech and language development0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000750HP:0000750Delayed speech and language development0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0000750HP:0000750Delayed speech and language development0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000750HP:0000750Delayed speech and language development0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000750HP:0000750Delayed speech and language development0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000750HP:0000750Delayed speech and language development0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0000750HP:0000750Delayed speech and language development0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0000750HP:0000750Delayed speech and language development0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0000750HP:0000750Delayed speech and language development0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000750HP:0000750Delayed speech and language development0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040281 - Very frequent5
HP:0000750HP:0000750Delayed speech and language development0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000750HP:0000750Delayed speech and language development0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000750HP:0000750Delayed speech and language development0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0000750HP:0000750Delayed speech and language development0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000750HP:0000750Delayed speech and language development0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0000750HP:0000750Delayed speech and language development0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0000750HP:0000750Delayed speech and language development0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0000750HP:0000750Delayed speech and language development0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0000750HP:0000750Delayed speech and language development0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000750HP:0000750Delayed speech and language development0ERMARD CL E G H5578021056OMIM:615544Periventricular nodular heterotopia 6.36
HP:0000750HP:0000750Delayed speech and language development0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000750HP:0000750Delayed speech and language development0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0000750HP:0000750Delayed speech and language development0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000750HP:0000750Delayed speech and language development0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040281 - Very frequent102
HP:0000750HP:0000750Delayed speech and language development0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0000750HP:0000750Delayed speech and language development0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000750HP:0000750Delayed speech and language development0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000750HP:0000750Delayed speech and language development0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0000750HP:0000750Delayed speech and language development0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0000750HP:0000750Delayed speech and language development0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0000750HP:0000750Delayed speech and language development0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000750HP:0000750Delayed speech and language development0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000750HP:0000750Delayed speech and language development0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000750HP:0000750Delayed speech and language development0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000750HP:0000750Delayed speech and language development0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 473
HP:0000750HP:0000750Delayed speech and language development0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000750HP:0000750Delayed speech and language development0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000750HP:0000750Delayed speech and language development0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000750HP:0000750Delayed speech and language development0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000750HP:0000750Delayed speech and language development0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000750HP:0000750Delayed speech and language development0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000750HP:0000750Delayed speech and language development0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000750HP:0000750Delayed speech and language development0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040281 - Very frequent111
HP:0000750HP:0000750Delayed speech and language development0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000750HP:0000750Delayed speech and language development0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0000750HP:0000750Delayed speech and language development0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000750HP:0000750Delayed speech and language development0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000750HP:0000750Delayed speech and language development0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0000750HP:0000750Delayed speech and language development0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0000750HP:0000750Delayed speech and language development0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000750HP:0000750Delayed speech and language development0FOCAD CL E G H5491423377OMIM:6199913
HP:0000750HP:0000750Delayed speech and language development0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000750HP:0000750Delayed speech and language development0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000750HP:0000750Delayed speech and language development0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000750HP:0000750Delayed speech and language development0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000750HP:0000750Delayed speech and language development0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000750HP:0000750Delayed speech and language development0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000750HP:0000750Delayed speech and language development0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0000750HP:0000750Delayed speech and language development0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040281 - Very frequent184
HP:0000750HP:0000750Delayed speech and language development0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000750HP:0000750Delayed speech and language development0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040281 - Very frequent143
HP:0000750HP:0000750Delayed speech and language development0FOXP2 CL E G H9398613875OMIM:602081Speech-language disorder-1.143
HP:0000750HP:0000750Delayed speech and language development0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0000750HP:0000750Delayed speech and language development0FRA16E CL E G H24643861OMIM:136570Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, includedHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000750HP:0000750Delayed speech and language development0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0000750HP:0000750Delayed speech and language development0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000750HP:0000750Delayed speech and language development0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0000750HP:0000750Delayed speech and language development0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040283 - Occasional65
HP:0000750HP:0000750Delayed speech and language development0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000750HP:0000750Delayed speech and language development0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0000750HP:0000750Delayed speech and language development0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0000750HP:0000750Delayed speech and language development0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0000750HP:0000750Delayed speech and language development0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0000750HP:0000750Delayed speech and language development0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0000750HP:0000750Delayed speech and language development0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0000750HP:0000750Delayed speech and language development0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74139
HP:0000750HP:0000750Delayed speech and language development0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0000750HP:0000750Delayed speech and language development0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0000750HP:0000750Delayed speech and language development0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000750HP:0000750Delayed speech and language development0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0000750HP:0000750Delayed speech and language development0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0000750HP:0000750Delayed speech and language development0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000750HP:0000750Delayed speech and language development0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000750HP:0000750Delayed speech and language development0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000750HP:0000750Delayed speech and language development0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000750HP:0000750Delayed speech and language development0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0000750HP:0000750Delayed speech and language development0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional1
HP:0000750HP:0000750Delayed speech and language development0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional9
HP:0000750HP:0000750Delayed speech and language development0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0000750HP:0000750Delayed speech and language development0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0000750HP:0000750Delayed speech and language development0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0000750HP:0000750Delayed speech and language development0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0000750HP:0000750Delayed speech and language development0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0000750HP:0000750Delayed speech and language development0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0000750HP:0000750Delayed speech and language development0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000750HP:0000750Delayed speech and language development0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000750HP:0000750Delayed speech and language development0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000750HP:0000750Delayed speech and language development0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000750HP:0000750Delayed speech and language development0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000750HP:0000750Delayed speech and language development0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000750HP:0000750Delayed speech and language development0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0000750HP:0000750Delayed speech and language development0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000750HP:0000750Delayed speech and language development0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine.
HP:0000750HP:0000750Delayed speech and language development0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040282 - Frequent6
HP:0000750HP:0000750Delayed speech and language development0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000750HP:0000750Delayed speech and language development0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000750HP:0000750Delayed speech and language development0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1434
HP:0000750HP:0000750Delayed speech and language development0GNAI1 CL E G H27704384OMIM:619854
HP:0000750HP:0000750Delayed speech and language development0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 1736
HP:0000750HP:0000750Delayed speech and language development0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements36
HP:0000750HP:0000750Delayed speech and language development0GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0000750HP:0000750Delayed speech and language development0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome12
HP:0000750HP:0000750Delayed speech and language development0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000750HP:0000750Delayed speech and language development0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0000750HP:0000750Delayed speech and language development0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.7
HP:0000750HP:0000750Delayed speech and language development0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000750HP:0000750Delayed speech and language development0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0000750HP:0000750Delayed speech and language development0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000750HP:0000750Delayed speech and language development0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000750HP:0000750Delayed speech and language development0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000750HP:0000750Delayed speech and language development0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000750HP:0000750Delayed speech and language development0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000750HP:0000750Delayed speech and language development0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000750HP:0000750Delayed speech and language development0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0000750HP:0000750Delayed speech and language development0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0000750HP:0000750Delayed speech and language development0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0000750HP:0000750Delayed speech and language development0GRIA1 CL E G H28904571OMIM:6199313
HP:0000750HP:0000750Delayed speech and language development0GRIA1 CL E G H28904571OMIM:6199273
HP:0000750HP:0000750Delayed speech and language development0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000750HP:0000750Delayed speech and language development0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040281 - Very frequent30
HP:0000750HP:0000750Delayed speech and language development0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000750HP:0000750Delayed speech and language development0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0000750HP:0000750Delayed speech and language development0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000750HP:0000750Delayed speech and language development0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0000750HP:0000750Delayed speech and language development0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0000750HP:0000750Delayed speech and language development0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000750HP:0000750Delayed speech and language development0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040281 - Very frequent434
HP:0000750HP:0000750Delayed speech and language development0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0000750HP:0000750Delayed speech and language development0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 462
HP:0000750HP:0000750Delayed speech and language development0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0000750HP:0000750Delayed speech and language development0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000750HP:0000750Delayed speech and language development0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0000750HP:0000750Delayed speech and language development0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000750HP:0000750Delayed speech and language development0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000750HP:0000750Delayed speech and language development0H4C5 CL E G H83674790OMIM:619950
HP:0000750HP:0000750Delayed speech and language development0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 1054
HP:0000750HP:0000750Delayed speech and language development0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0000750HP:0000750Delayed speech and language development0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0000750HP:0000750Delayed speech and language development0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000750HP:0000750Delayed speech and language development0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A82
HP:0000750HP:0000750Delayed speech and language development0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0000750HP:0000750Delayed speech and language development0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000750HP:0000750Delayed speech and language development0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000750HP:0000750Delayed speech and language development0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000750HP:0000750Delayed speech and language development0HID1 CL E G H28398715736OMIM:619983
HP:0000750HP:0000750Delayed speech and language development0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 133
HP:0000750HP:0000750Delayed speech and language development0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000750HP:0000750Delayed speech and language development0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000750HP:0000750Delayed speech and language development0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0000750HP:0000750Delayed speech and language development0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent2
HP:0000750HP:0000750Delayed speech and language development0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 513
HP:0000750HP:0000750Delayed speech and language development0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000750HP:0000750Delayed speech and language development0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000750HP:0000750Delayed speech and language development0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0000750HP:0000750Delayed speech and language development0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 5439
HP:0000750HP:0000750Delayed speech and language development0HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040282 - Frequent21
HP:0000750HP:0000750Delayed speech and language development0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000750HP:0000750Delayed speech and language development0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000750HP:0000750Delayed speech and language development0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0000750HP:0000750Delayed speech and language development0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0000750HP:0000750Delayed speech and language development0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0000750HP:0000750Delayed speech and language development0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0000750HP:0000750Delayed speech and language development0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0000750HP:0000750Delayed speech and language development0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000750HP:0000750Delayed speech and language development0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0000750HP:0000750Delayed speech and language development0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0000750HP:0000750Delayed speech and language development0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0000750HP:0000750Delayed speech and language development0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000750HP:0000750Delayed speech and language development0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0000750HP:0000750Delayed speech and language development0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000750HP:0000750Delayed speech and language development0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent9
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome.111
HP:0000750HP:0000750Delayed speech and language development0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040281 - Very frequent111
HP:0000750HP:0000750Delayed speech and language development0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000750HP:0000750Delayed speech and language development0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0000750HP:0000750Delayed speech and language development0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000750HP:0000750Delayed speech and language development0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndromeHP:0040281 - Very frequent119
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0000750HP:0000750Delayed speech and language development0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000750HP:0000750Delayed speech and language development0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000750HP:0000750Delayed speech and language development0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000750HP:0000750Delayed speech and language development0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0000750HP:0000750Delayed speech and language development0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 47
HP:0000750HP:0000750Delayed speech and language development0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0000750HP:0000750Delayed speech and language development0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0000750HP:0000750Delayed speech and language development0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000750HP:0000750Delayed speech and language development0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040281 - Very frequent283
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000750HP:0000750Delayed speech and language development0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040281 - Very frequent283
HP:0000750HP:0000750Delayed speech and language development0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000750HP:0000750Delayed speech and language development0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000750HP:0000750Delayed speech and language development0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0000750HP:0000750Delayed speech and language development0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000750HP:0000750Delayed speech and language development0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0000750HP:0000750Delayed speech and language development0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 3213
HP:0000750HP:0000750Delayed speech and language development0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0000750HP:0000750Delayed speech and language development0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0000750HP:0000750Delayed speech and language development0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0000750HP:0000750Delayed speech and language development0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0000750HP:0000750Delayed speech and language development0KCNC2 CL E G H37476234OMIM:619913
HP:0000750HP:0000750Delayed speech and language development0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0000750HP:0000750Delayed speech and language development0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0000750HP:0000750Delayed speech and language development0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000750HP:0000750Delayed speech and language development0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000750HP:0000750Delayed speech and language development0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000750HP:0000750Delayed speech and language development0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000750HP:0000750Delayed speech and language development0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 465
HP:0000750HP:0000750Delayed speech and language development0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0000750HP:0000750Delayed speech and language development0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000750HP:0000750Delayed speech and language development0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000750HP:0000750Delayed speech and language development0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000750HP:0000750Delayed speech and language development0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000750HP:0000750Delayed speech and language development0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000750HP:0000750Delayed speech and language development0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040281 - Very frequent81
HP:0000750HP:0000750Delayed speech and language development0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000750HP:0000750Delayed speech and language development0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000750HP:0000750Delayed speech and language development0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000750HP:0000750Delayed speech and language development0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0000750HP:0000750Delayed speech and language development0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0000750HP:0000750Delayed speech and language development0KIF4A CL E G H2413713339OMIM:300923MENTAL RETARDATION, X-LINKED 100; MRX1005
HP:0000750HP:0000750Delayed speech and language development0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0000750HP:0000750Delayed speech and language development0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000750HP:0000750Delayed speech and language development0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040281 - Very frequent91
HP:0000750HP:0000750Delayed speech and language development0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0000750HP:0000750Delayed speech and language development0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0000750HP:0000750Delayed speech and language development0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0000750HP:0000750Delayed speech and language development0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0000750HP:0000750Delayed speech and language development0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0000750HP:0000750Delayed speech and language development0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000750HP:0000750Delayed speech and language development0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040282 - Frequent13
HP:0000750HP:0000750Delayed speech and language development0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0000750HP:0000750Delayed speech and language development0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2HP:0040284 - Very rare5
HP:0000750HP:0000750Delayed speech and language development0L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040281 - Very frequent134
HP:0000750HP:0000750Delayed speech and language development0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000750HP:0000750Delayed speech and language development0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040284 - Very rare35
HP:0000750HP:0000750Delayed speech and language development0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0000750HP:0000750Delayed speech and language development0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000750HP:0000750Delayed speech and language development0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000750HP:0000750Delayed speech and language development0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0000750HP:0000750Delayed speech and language development0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0000750HP:0000750Delayed speech and language development0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0000750HP:0000750Delayed speech and language development0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0000750HP:0000750Delayed speech and language development0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0000750HP:0000750Delayed speech and language development0LMAN2L CL E G H8156219263OMIM:6178631
HP:0000750HP:0000750Delayed speech and language development0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000750HP:0000750Delayed speech and language development0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000750HP:0000750Delayed speech and language development0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0000750HP:0000750Delayed speech and language development0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0000750HP:0000750Delayed speech and language development0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0000750HP:0000750Delayed speech and language development0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040283 - Occasional125
HP:0000750HP:0000750Delayed speech and language development0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0000750HP:0000750Delayed speech and language development0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000750HP:0000750Delayed speech and language development0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000750HP:0000750Delayed speech and language development0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0000750HP:0000750Delayed speech and language development0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0000750HP:0000750Delayed speech and language development0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000750HP:0000750Delayed speech and language development0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000750HP:0000750Delayed speech and language development0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000750HP:0000750Delayed speech and language development0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0000750HP:0000750Delayed speech and language development0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040281 - Very frequent136
HP:0000750HP:0000750Delayed speech and language development0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000750HP:0000750Delayed speech and language development0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000750HP:0000750Delayed speech and language development0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000750HP:0000750Delayed speech and language development0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000750HP:0000750Delayed speech and language development0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040281 - Very frequent252
HP:0000750HP:0000750Delayed speech and language development0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 575
HP:0000750HP:0000750Delayed speech and language development0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional13
HP:0000750HP:0000750Delayed speech and language development0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0000750HP:0000750Delayed speech and language development0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0000750HP:0000750Delayed speech and language development0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0000750HP:0000750Delayed speech and language development0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000750HP:0000750Delayed speech and language development0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0000750HP:0000750Delayed speech and language development0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000750HP:0000750Delayed speech and language development0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000750HP:0000750Delayed speech and language development0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000750HP:0000750Delayed speech and language development0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000750HP:0000750Delayed speech and language development0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040281 - Very frequent74
HP:0000750HP:0000750Delayed speech and language development0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0000750HP:0000750Delayed speech and language development0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0000750HP:0000750Delayed speech and language development0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000750HP:0000750Delayed speech and language development0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040281 - Very frequent132
HP:0000750HP:0000750Delayed speech and language development0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000750HP:0000750Delayed speech and language development0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040281 - Very frequent7
HP:0000750HP:0000750Delayed speech and language development0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000750HP:0000750Delayed speech and language development0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000750HP:0000750Delayed speech and language development0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 217
HP:0000750HP:0000750Delayed speech and language development0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0000750HP:0000750Delayed speech and language development0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0000750HP:0000750Delayed speech and language development0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000750HP:0000750Delayed speech and language development0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000750HP:0000750Delayed speech and language development0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000750HP:0000750Delayed speech and language development0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000750HP:0000750Delayed speech and language development0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000750HP:0000750Delayed speech and language development0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000750HP:0000750Delayed speech and language development0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0000750HP:0000750Delayed speech and language development0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0000750HP:0000750Delayed speech and language development0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000750HP:0000750Delayed speech and language development0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000750HP:0000750Delayed speech and language development0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0000750HP:0000750Delayed speech and language development0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0000750HP:0000750Delayed speech and language development0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0000750HP:0000750Delayed speech and language development0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000750HP:0000750Delayed speech and language development0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0000750HP:0000750Delayed speech and language development0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15.29
HP:0000750HP:0000750Delayed speech and language development0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0000750HP:0000750Delayed speech and language development0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0000750HP:0000750Delayed speech and language development0MYRF CL E G H7451181OMIM:618113Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization.2
HP:0000750HP:0000750Delayed speech and language development0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0000750HP:0000750Delayed speech and language development0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000750HP:0000750Delayed speech and language development0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0000750HP:0000750Delayed speech and language development0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000750HP:0000750Delayed speech and language development0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0000750HP:0000750Delayed speech and language development0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000750HP:0000750Delayed speech and language development0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000750HP:0000750Delayed speech and language development0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000750HP:0000750Delayed speech and language development0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000750HP:0000750Delayed speech and language development0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0000750HP:0000750Delayed speech and language development0NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive
HP:0000750HP:0000750Delayed speech and language development0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0000750HP:0000750Delayed speech and language development0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000750HP:0000750Delayed speech and language development0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000750HP:0000750Delayed speech and language development0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0000750HP:0000750Delayed speech and language development0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000750HP:0000750Delayed speech and language development0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0000750HP:0000750Delayed speech and language development0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 730
HP:0000750HP:0000750Delayed speech and language development0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactylyHP:0040284 - Very rare101
HP:0000750HP:0000750Delayed speech and language development0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0000750HP:0000750Delayed speech and language development0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000750HP:0000750Delayed speech and language development0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000750HP:0000750Delayed speech and language development0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel type52
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040283 - Occasional1952
HP:0000750HP:0000750Delayed speech and language development0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0000750HP:0000750Delayed speech and language development0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040281 - Very frequent40
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000750HP:0000750Delayed speech and language development0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000750HP:0000750Delayed speech and language development0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0000750HP:0000750Delayed speech and language development0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0000750HP:0000750Delayed speech and language development0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000750HP:0000750Delayed speech and language development0NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1HP:0040282 - Frequent24
HP:0000750HP:0000750Delayed speech and language development0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 2.57
HP:0000750HP:0000750Delayed speech and language development0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional50
HP:0000750HP:0000750Delayed speech and language development0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000750HP:0000750Delayed speech and language development0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000750HP:0000750Delayed speech and language development0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000750HP:0000750Delayed speech and language development0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000750HP:0000750Delayed speech and language development0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0000750HP:0000750Delayed speech and language development0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000750HP:0000750Delayed speech and language development0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000750HP:0000750Delayed speech and language development0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000750HP:0000750Delayed speech and language development0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000750HP:0000750Delayed speech and language development0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0000750HP:0000750Delayed speech and language development0NR4A2 CL E G H49297981OMIM:61991127
HP:0000750HP:0000750Delayed speech and language development0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000750HP:0000750Delayed speech and language development0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000750HP:0000750Delayed speech and language development0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000750HP:0000750Delayed speech and language development0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000750HP:0000750Delayed speech and language development0NSRP1 CL E G H8408125305OMIM:620001
HP:0000750HP:0000750Delayed speech and language development0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000750HP:0000750Delayed speech and language development0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000750HP:0000750Delayed speech and language development0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0000750HP:0000750Delayed speech and language development0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0000750HP:0000750Delayed speech and language development0NUDT2 CL E G H3188049OMIM:619844
HP:0000750HP:0000750Delayed speech and language development0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000750HP:0000750Delayed speech and language development0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0000750HP:0000750Delayed speech and language development0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0000750HP:0000750Delayed speech and language development0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0000750HP:0000750Delayed speech and language development0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000750HP:0000750Delayed speech and language development0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0000750HP:0000750Delayed speech and language development0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000750HP:0000750Delayed speech and language development0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000750HP:0000750Delayed speech and language development0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional201
HP:0000750HP:0000750Delayed speech and language development0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0000750HP:0000750Delayed speech and language development0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000750HP:0000750Delayed speech and language development0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3HP:0040283 - Occasional39
HP:0000750HP:0000750Delayed speech and language development0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000750HP:0000750Delayed speech and language development0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0000750HP:0000750Delayed speech and language development0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000750HP:0000750Delayed speech and language development0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040281 - Very frequent24
HP:0000750HP:0000750Delayed speech and language development0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000750HP:0000750Delayed speech and language development0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000750HP:0000750Delayed speech and language development0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000750HP:0000750Delayed speech and language development0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000750HP:0000750Delayed speech and language development0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000750HP:0000750Delayed speech and language development0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0000750HP:0000750Delayed speech and language development0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000750HP:0000750Delayed speech and language development0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0000750HP:0000750Delayed speech and language development0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000750HP:0000750Delayed speech and language development0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000750HP:0000750Delayed speech and language development0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0000750HP:0000750Delayed speech and language development0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0000750HP:0000750Delayed speech and language development0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000750HP:0000750Delayed speech and language development0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0000750HP:0000750Delayed speech and language development0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000750HP:0000750Delayed speech and language development0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 38
HP:0000750HP:0000750Delayed speech and language development0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0000750HP:0000750Delayed speech and language development0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0000750HP:0000750Delayed speech and language development0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000750HP:0000750Delayed speech and language development0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome.23
HP:0000750HP:0000750Delayed speech and language development0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0000750HP:0000750Delayed speech and language development0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0000750HP:0000750Delayed speech and language development0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0000750HP:0000750Delayed speech and language development0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0000750HP:0000750Delayed speech and language development0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000750HP:0000750Delayed speech and language development0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0000750HP:0000750Delayed speech and language development0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000750HP:0000750Delayed speech and language development0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000750HP:0000750Delayed speech and language development0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0000750HP:0000750Delayed speech and language development0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency6
HP:0000750HP:0000750Delayed speech and language development0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0000750HP:0000750Delayed speech and language development0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0000750HP:0000750Delayed speech and language development0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 552
HP:0000750HP:0000750Delayed speech and language development0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000750HP:0000750Delayed speech and language development0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardationHP:0040283 - Occasional57
HP:0000750HP:0000750Delayed speech and language development0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 116
HP:0000750HP:0000750Delayed speech and language development0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0000750HP:0000750Delayed speech and language development0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000750HP:0000750Delayed speech and language development0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0000750HP:0000750Delayed speech and language development0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0000750HP:0000750Delayed speech and language development0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000750HP:0000750Delayed speech and language development0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000750HP:0000750Delayed speech and language development0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0000750HP:0000750Delayed speech and language development0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0000750HP:0000750Delayed speech and language development0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6
HP:0000750HP:0000750Delayed speech and language development0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0000750HP:0000750Delayed speech and language development0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0000750HP:0000750Delayed speech and language development0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000750HP:0000750Delayed speech and language development0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000750HP:0000750Delayed speech and language development0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 231
HP:0000750HP:0000750Delayed speech and language development0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0000750HP:0000750Delayed speech and language development0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000750HP:0000750Delayed speech and language development0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000750HP:0000750Delayed speech and language development0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000750HP:0000750Delayed speech and language development0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8HP:0040284 - Very rare33
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0000750HP:0000750Delayed speech and language development0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0000750HP:0000750Delayed speech and language development0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000750HP:0000750Delayed speech and language development0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000750HP:0000750Delayed speech and language development0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000750HP:0000750Delayed speech and language development0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0PPFIBP1 CL E G H84969249OMIM:620024
HP:0000750HP:0000750Delayed speech and language development0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0000750HP:0000750Delayed speech and language development0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000750HP:0000750Delayed speech and language development0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000750HP:0000750Delayed speech and language development0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000750HP:0000750Delayed speech and language development0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0000750HP:0000750Delayed speech and language development0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0000750HP:0000750Delayed speech and language development0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040281 - Very frequent10
HP:0000750HP:0000750Delayed speech and language development0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0000750HP:0000750Delayed speech and language development0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0000750HP:0000750Delayed speech and language development0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0000750HP:0000750Delayed speech and language development0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0000750HP:0000750Delayed speech and language development0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0000750HP:0000750Delayed speech and language development0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000750HP:0000750Delayed speech and language development0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0000750HP:0000750Delayed speech and language development0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0000750HP:0000750Delayed speech and language development0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000750HP:0000750Delayed speech and language development0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000750HP:0000750Delayed speech and language development0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0000750HP:0000750Delayed speech and language development0PRPS1 CL E G H56319462OMIM:301835Arts syndrome49
HP:0000750HP:0000750Delayed speech and language development0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000750HP:0000750Delayed speech and language development0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0000750HP:0000750Delayed speech and language development0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000750HP:0000750Delayed speech and language development0PSMB1 CL E G H56899537OMIM:6200382
HP:0000750HP:0000750Delayed speech and language development0PSMC1 CL E G H57009547OMIM:6200711
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent4
HP:0000750HP:0000750Delayed speech and language development0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000750HP:0000750Delayed speech and language development0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0000750HP:0000750Delayed speech and language development0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000750HP:0000750Delayed speech and language development0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000750HP:0000750Delayed speech and language development0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000750HP:0000750Delayed speech and language development0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000750HP:0000750Delayed speech and language development0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0000750HP:0000750Delayed speech and language development0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0000750HP:0000750Delayed speech and language development0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000750HP:0000750Delayed speech and language development0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000750HP:0000750Delayed speech and language development0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0000750HP:0000750Delayed speech and language development0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000750HP:0000750Delayed speech and language development0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0000750HP:0000750Delayed speech and language development0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000750HP:0000750Delayed speech and language development0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000750HP:0000750Delayed speech and language development0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 1011
HP:0000750HP:0000750Delayed speech and language development0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0000750HP:0000750Delayed speech and language development0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000750HP:0000750Delayed speech and language development0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000750HP:0000750Delayed speech and language development0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0000750HP:0000750Delayed speech and language development0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000750HP:0000750Delayed speech and language development0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0000750HP:0000750Delayed speech and language development0RAB5IF CL E G H5596915870OMIM:616994
HP:0000750HP:0000750Delayed speech and language development0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000750HP:0000750Delayed speech and language development0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040281 - Very frequent150
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000750HP:0000750Delayed speech and language development0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000750HP:0000750Delayed speech and language development0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000750HP:0000750Delayed speech and language development0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000750HP:0000750Delayed speech and language development0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0000750HP:0000750Delayed speech and language development0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0000750HP:0000750Delayed speech and language development0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0000750HP:0000750Delayed speech and language development0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0000750HP:0000750Delayed speech and language development0RIMS2 CL E G H969917283OMIM:618970CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS2
HP:0000750HP:0000750Delayed speech and language development0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000750HP:0000750Delayed speech and language development0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0000750HP:0000750Delayed speech and language development0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0000750HP:0000750Delayed speech and language development0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000750HP:0000750Delayed speech and language development0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000750HP:0000750Delayed speech and language development0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000750HP:0000750Delayed speech and language development0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0000750HP:0000750Delayed speech and language development0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional200
HP:0000750HP:0000750Delayed speech and language development0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000750HP:0000750Delayed speech and language development0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000750HP:0000750Delayed speech and language development0RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0000750HP:0000750Delayed speech and language development0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000750HP:0000750Delayed speech and language development0RRP7A CL E G H2734124286OMIM:619453MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000750HP:0000750Delayed speech and language development0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional31
HP:0000750HP:0000750Delayed speech and language development0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional5
HP:0000750HP:0000750Delayed speech and language development0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional58
HP:0000750HP:0000750Delayed speech and language development0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0000750HP:0000750Delayed speech and language development0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0000750HP:0000750Delayed speech and language development0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0000750HP:0000750Delayed speech and language development0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0000750HP:0000750Delayed speech and language development0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040281 - Very frequent9
HP:0000750HP:0000750Delayed speech and language development0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0000750HP:0000750Delayed speech and language development0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000750HP:0000750Delayed speech and language development0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000750HP:0000750Delayed speech and language development0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0000750HP:0000750Delayed speech and language development0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040281 - Very frequent34
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0000750HP:0000750Delayed speech and language development0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0000750HP:0000750Delayed speech and language development0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0000750HP:0000750Delayed speech and language development0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 4HP:0040284 - Very rare70
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0000750HP:0000750Delayed speech and language development0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0000750HP:0000750Delayed speech and language development0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia.357
HP:0000750HP:0000750Delayed speech and language development0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0000750HP:0000750Delayed speech and language development0SCNM1 CL E G H7900523136OMIM:620107
HP:0000750HP:0000750Delayed speech and language development0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0000750HP:0000750Delayed speech and language development0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0000750HP:0000750Delayed speech and language development0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0000750HP:0000750Delayed speech and language development0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0000750HP:0000750Delayed speech and language development0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0000750HP:0000750Delayed speech and language development0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000750HP:0000750Delayed speech and language development0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000750HP:0000750Delayed speech and language development0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000750HP:0000750Delayed speech and language development0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome47
HP:0000750HP:0000750Delayed speech and language development0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000750HP:0000750Delayed speech and language development0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040281 - Very frequent143
HP:0000750HP:0000750Delayed speech and language development0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000750HP:0000750Delayed speech and language development0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000750HP:0000750Delayed speech and language development0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000750HP:0000750Delayed speech and language development0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000750HP:0000750Delayed speech and language development0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040281 - Very frequent43
HP:0000750HP:0000750Delayed speech and language development0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000750HP:0000750Delayed speech and language development0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040281 - Very frequent49
HP:0000750HP:0000750Delayed speech and language development0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0000750HP:0000750Delayed speech and language development0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040281 - Very frequent53
HP:0000750HP:0000750Delayed speech and language development0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000750HP:0000750Delayed speech and language development0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000750HP:0000750Delayed speech and language development0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000750HP:0000750Delayed speech and language development0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000750HP:0000750Delayed speech and language development0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000750HP:0000750Delayed speech and language development0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0000750HP:0000750Delayed speech and language development0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000750HP:0000750Delayed speech and language development0SHQ1 CL E G H5516425543OMIM:619922
HP:0000750HP:0000750Delayed speech and language development0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0000750HP:0000750Delayed speech and language development0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000750HP:0000750Delayed speech and language development0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0000750HP:0000750Delayed speech and language development0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0000750HP:0000750Delayed speech and language development0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040281 - Very frequent40
HP:0000750HP:0000750Delayed speech and language development0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0000750HP:0000750Delayed speech and language development0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000750HP:0000750Delayed speech and language development0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0000750HP:0000750Delayed speech and language development0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0000750HP:0000750Delayed speech and language development0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000750HP:0000750Delayed speech and language development0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000750HP:0000750Delayed speech and language development0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0000750HP:0000750Delayed speech and language development0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0000750HP:0000750Delayed speech and language development0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0000750HP:0000750Delayed speech and language development0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0000750HP:0000750Delayed speech and language development0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0000750HP:0000750Delayed speech and language development0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0000750HP:0000750Delayed speech and language development0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0000750HP:0000750Delayed speech and language development0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040281 - Very frequent4
HP:0000750HP:0000750Delayed speech and language development0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000750HP:0000750Delayed speech and language development0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionHP:0040284 - Very rare1
HP:0000750HP:0000750Delayed speech and language development0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000750HP:0000750Delayed speech and language development0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects255
HP:0000750HP:0000750Delayed speech and language development0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000750HP:0000750Delayed speech and language development0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration48
HP:0000750HP:0000750Delayed speech and language development0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000750HP:0000750Delayed speech and language development0SLC38A3 CL E G H1099118044OMIM:619881
HP:0000750HP:0000750Delayed speech and language development0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0000750HP:0000750Delayed speech and language development0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000750HP:0000750Delayed speech and language development0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000750HP:0000750Delayed speech and language development0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0000750HP:0000750Delayed speech and language development0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000750HP:0000750Delayed speech and language development0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040281 - Very frequent122
HP:0000750HP:0000750Delayed speech and language development0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0000750HP:0000750Delayed speech and language development0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0000750HP:0000750Delayed speech and language development0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108HP:0040284 - Very rare
HP:0000750HP:0000750Delayed speech and language development0SMAD6 CL E G H40916772OMIM:617439Craniosynostosis 7.33
HP:0000750HP:0000750Delayed speech and language development0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000750HP:0000750Delayed speech and language development0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0000750HP:0000750Delayed speech and language development0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000750HP:0000750Delayed speech and language development0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0000750HP:0000750Delayed speech and language development0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0000750HP:0000750Delayed speech and language development0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0000750HP:0000750Delayed speech and language development0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8HP:0040284 - Very rare1
HP:0000750HP:0000750Delayed speech and language development0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0000750HP:0000750Delayed speech and language development0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000750HP:0000750Delayed speech and language development0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0000750HP:0000750Delayed speech and language development0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000750HP:0000750Delayed speech and language development0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000750HP:0000750Delayed speech and language development0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000750HP:0000750Delayed speech and language development0SMG9 CL E G H5600625763OMIM:6199952
HP:0000750HP:0000750Delayed speech and language development0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0000750HP:0000750Delayed speech and language development0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000750HP:0000750Delayed speech and language development0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0000750HP:0000750Delayed speech and language development0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000750HP:0000750Delayed speech and language development0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0000750HP:0000750Delayed speech and language development0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0000750HP:0000750Delayed speech and language development0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0000750HP:0000750Delayed speech and language development0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0000750HP:0000750Delayed speech and language development0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0000750HP:0000750Delayed speech and language development0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040281 - Very frequent11
HP:0000750HP:0000750Delayed speech and language development0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000750HP:0000750Delayed speech and language development0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional45
HP:0000750HP:0000750Delayed speech and language development0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0000750HP:0000750Delayed speech and language development0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0000750HP:0000750Delayed speech and language development0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0000750HP:0000750Delayed speech and language development0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0000750HP:0000750Delayed speech and language development0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional15
HP:0000750HP:0000750Delayed speech and language development0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000750HP:0000750Delayed speech and language development0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0000750HP:0000750Delayed speech and language development0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000750HP:0000750Delayed speech and language development0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000750HP:0000750Delayed speech and language development0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000750HP:0000750Delayed speech and language development0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0000750HP:0000750Delayed speech and language development0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000750HP:0000750Delayed speech and language development0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0000750HP:0000750Delayed speech and language development0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0000750HP:0000750Delayed speech and language development0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000750HP:0000750Delayed speech and language development0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000750HP:0000750Delayed speech and language development0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0000750HP:0000750Delayed speech and language development0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000750HP:0000750Delayed speech and language development0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0000750HP:0000750Delayed speech and language development0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040281 - Very frequent50
HP:0000750HP:0000750Delayed speech and language development0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0000750HP:0000750Delayed speech and language development0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000750HP:0000750Delayed speech and language development0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000750HP:0000750Delayed speech and language development0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive99
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000750HP:0000750Delayed speech and language development0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0000750HP:0000750Delayed speech and language development0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional3
HP:0000750HP:0000750Delayed speech and language development0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000750HP:0000750Delayed speech and language development0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0000750HP:0000750Delayed speech and language development0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000750HP:0000750Delayed speech and language development0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0000750HP:0000750Delayed speech and language development0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0000750HP:0000750Delayed speech and language development0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0000750HP:0000750Delayed speech and language development0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000750HP:0000750Delayed speech and language development0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0000750HP:0000750Delayed speech and language development0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040281 - Very frequent108
HP:0000750HP:0000750Delayed speech and language development0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0000750HP:0000750Delayed speech and language development0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0000750HP:0000750Delayed speech and language development0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0000750HP:0000750Delayed speech and language development0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000750HP:0000750Delayed speech and language development0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0000750HP:0000750Delayed speech and language development0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0000750HP:0000750Delayed speech and language development0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndrome7
HP:0000750HP:0000750Delayed speech and language development0TAF8 CL E G H12968517300OMIM:619972
HP:0000750HP:0000750Delayed speech and language development0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000750HP:0000750Delayed speech and language development0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0000750HP:0000750Delayed speech and language development0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0000750HP:0000750Delayed speech and language development0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000750HP:0000750Delayed speech and language development0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000750HP:0000750Delayed speech and language development0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000750HP:0000750Delayed speech and language development0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0000750HP:0000750Delayed speech and language development0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0000750HP:0000750Delayed speech and language development0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0000750HP:0000750Delayed speech and language development0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000750HP:0000750Delayed speech and language development0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0000750HP:0000750Delayed speech and language development0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000750HP:0000750Delayed speech and language development0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0000750HP:0000750Delayed speech and language development0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0000750HP:0000750Delayed speech and language development0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000750HP:0000750Delayed speech and language development0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0000750HP:0000750Delayed speech and language development0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000750HP:0000750Delayed speech and language development0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040281 - Very frequent55
HP:0000750HP:0000750Delayed speech and language development0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000750HP:0000750Delayed speech and language development0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0000750HP:0000750Delayed speech and language development0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0000750HP:0000750Delayed speech and language development0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0000750HP:0000750Delayed speech and language development0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0000750HP:0000750Delayed speech and language development0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 14.17
HP:0000750HP:0000750Delayed speech and language development0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000750HP:0000750Delayed speech and language development0TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome12
HP:0000750HP:0000750Delayed speech and language development0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000750HP:0000750Delayed speech and language development0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII.
HP:0000750HP:0000750Delayed speech and language development0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000750HP:0000750Delayed speech and language development0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000750HP:0000750Delayed speech and language development0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0000750HP:0000750Delayed speech and language development0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0000750HP:0000750Delayed speech and language development0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0000750HP:0000750Delayed speech and language development0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0000750HP:0000750Delayed speech and language development0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040281 - Very frequent1
HP:0000750HP:0000750Delayed speech and language development0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant.161
HP:0000750HP:0000750Delayed speech and language development0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000750HP:0000750Delayed speech and language development0TIAM1 CL E G H707411805OMIM:6199082
HP:0000750HP:0000750Delayed speech and language development0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0000750HP:0000750Delayed speech and language development0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0000750HP:0000750Delayed speech and language development0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0000750HP:0000750Delayed speech and language development0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0000750HP:0000750Delayed speech and language development0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0000750HP:0000750Delayed speech and language development0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0000750HP:0000750Delayed speech and language development0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000750HP:0000750Delayed speech and language development0TM4SF20 CL E G H7985326230OMIM:615432SPECIFIC LANGUAGE IMPAIRMENT 5; SLI53
HP:0000750HP:0000750Delayed speech and language development0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000750HP:0000750Delayed speech and language development0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0000750HP:0000750Delayed speech and language development0TMEM147 CL E G H1043030414OMIM:620075
HP:0000750HP:0000750Delayed speech and language development0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000750HP:0000750Delayed speech and language development0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0000750HP:0000750Delayed speech and language development0TMEM63C CL E G H5715623787OMIM:619966
HP:0000750HP:0000750Delayed speech and language development0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000750HP:0000750Delayed speech and language development0TMLHE CL E G H5521718308OMIM:300872Autism, susceptibility to, X-linked 6HP:0040283 - Occasional10
HP:0000750HP:0000750Delayed speech and language development0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0000750HP:0000750Delayed speech and language development0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 54.2
HP:0000750HP:0000750Delayed speech and language development0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000750HP:0000750Delayed speech and language development0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0000750HP:0000750Delayed speech and language development0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000750HP:0000750Delayed speech and language development0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000750HP:0000750Delayed speech and language development0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000750HP:0000750Delayed speech and language development0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000750HP:0000750Delayed speech and language development0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000750HP:0000750Delayed speech and language development0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0000750HP:0000750Delayed speech and language development0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0000750HP:0000750Delayed speech and language development0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0000750HP:0000750Delayed speech and language development0TPRN CL E G H28626226894OMIM:613307Deafness, autosomal recessive 79.HP:0011463 - Childhood onset32
HP:0000750HP:0000750Delayed speech and language development0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0000750HP:0000750Delayed speech and language development0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000750HP:0000750Delayed speech and language development0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0000750HP:0000750Delayed speech and language development0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0000750HP:0000750Delayed speech and language development0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000750HP:0000750Delayed speech and language development0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000750HP:0000750Delayed speech and language development0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000750HP:0000750Delayed speech and language development0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000750HP:0000750Delayed speech and language development0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000750HP:0000750Delayed speech and language development0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000750HP:0000750Delayed speech and language development0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000750HP:0000750Delayed speech and language development0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040283 - Occasional4
HP:0000750HP:0000750Delayed speech and language development0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0000750HP:0000750Delayed speech and language development0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0000750HP:0000750Delayed speech and language development0TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatalHP:0040284 - Very rare4
HP:0000750HP:0000750Delayed speech and language development0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000750HP:0000750Delayed speech and language development0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0000750HP:0000750Delayed speech and language development0TSHR CL E G H725312373OMIM:609152Hyperthyroidism, nonautoimmune.97
HP:0000750HP:0000750Delayed speech and language development0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000750HP:0000750Delayed speech and language development0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0000750HP:0000750Delayed speech and language development0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0000750HP:0000750Delayed speech and language development0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000750HP:0000750Delayed speech and language development0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000750HP:0000750Delayed speech and language development0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0000750HP:0000750Delayed speech and language development0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000750HP:0000750Delayed speech and language development0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 6.14
HP:0000750HP:0000750Delayed speech and language development0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0000750HP:0000750Delayed speech and language development0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0000750HP:0000750Delayed speech and language development0TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 164
HP:0000750HP:0000750Delayed speech and language development0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0000750HP:0000750Delayed speech and language development0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent14
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0000750HP:0000750Delayed speech and language development0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000750HP:0000750Delayed speech and language development0UBA2 CL E G H1005430661OMIM:619959
HP:0000750HP:0000750Delayed speech and language development0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 4413
HP:0000750HP:0000750Delayed speech and language development0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0000750HP:0000750Delayed speech and language development0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0000750HP:0000750Delayed speech and language development0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040281 - Very frequent278
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0000750HP:0000750Delayed speech and language development0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0000750HP:0000750Delayed speech and language development0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000750HP:0000750Delayed speech and language development0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000750HP:0000750Delayed speech and language development0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0000750Delayed speech and language development0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0000750HP:0000750Delayed speech and language development0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0000750HP:0000750Delayed speech and language development0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14
HP:0000750HP:0000750Delayed speech and language development0UFSP2 CL E G H5532525640OMIM:6200282
HP:0000750HP:0000750Delayed speech and language development0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000750HP:0000750Delayed speech and language development0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040283 - Occasional73
HP:0000750HP:0000750Delayed speech and language development0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000750HP:0000750Delayed speech and language development0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0000750HP:0000750Delayed speech and language development0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 434
HP:0000750HP:0000750Delayed speech and language development0USP27X CL E G H38985613486OMIM:300984MENTAL RETARDATION, X-LINKED 105; MRX1053
HP:0000750HP:0000750Delayed speech and language development0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0000750HP:0000750Delayed speech and language development0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0000750HP:0000750Delayed speech and language development0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000750HP:0000750Delayed speech and language development0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0000750HP:0000750Delayed speech and language development0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000750HP:0000750Delayed speech and language development0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0000750HP:0000750Delayed speech and language development0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0000750HP:0000750Delayed speech and language development0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophy1
HP:0000750HP:0000750Delayed speech and language development0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0000750HP:0000750Delayed speech and language development0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0000750HP:0000750Delayed speech and language development0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000750HP:0000750Delayed speech and language development0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040281 - Very frequent20
HP:0000750HP:0000750Delayed speech and language development0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20
HP:0000750HP:0000750Delayed speech and language development0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0000750HP:0000750Delayed speech and language development0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000750HP:0000750Delayed speech and language development0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0000750HP:0000750Delayed speech and language development0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000750HP:0000750Delayed speech and language development0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0000750HP:0000750Delayed speech and language development0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040281 - Very frequent8
HP:0000750HP:0000750Delayed speech and language development0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0000750HP:0000750Delayed speech and language development0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000750HP:0000750Delayed speech and language development0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0000750HP:0000750Delayed speech and language development0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000750HP:0000750Delayed speech and language development0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 551
HP:0000750HP:0000750Delayed speech and language development0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0000750HP:0000750Delayed speech and language development0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0000750HP:0000750Delayed speech and language development0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0000750HP:0000750Delayed speech and language development0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0000750HP:0000750Delayed speech and language development0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0000750HP:0000750Delayed speech and language development0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H5174112799ORPHA:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyHP:0040281 - Very frequent149
HP:0000750HP:0000750Delayed speech and language development0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0000750HP:0000750Delayed speech and language development0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000750HP:0000750Delayed speech and language development0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0000750HP:0000750Delayed speech and language development0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000750HP:0000750Delayed speech and language development0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000750HP:0000750Delayed speech and language development0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0000750HP:0000750Delayed speech and language development0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000750HP:0000750Delayed speech and language development0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0000750HP:0000750Delayed speech and language development0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0000750HP:0000750Delayed speech and language development0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0000750HP:0000750Delayed speech and language development0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0000750HP:0000750Delayed speech and language development0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000750HP:0000750Delayed speech and language development0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000750HP:0000750Delayed speech and language development0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000750HP:0000750Delayed speech and language development0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000750HP:0000750Delayed speech and language development0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000750HP:0000750Delayed speech and language development0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000750HP:0000750Delayed speech and language development0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000750HP:0000750Delayed speech and language development0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000750HP:0000750Delayed speech and language development0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000750HP:0000750Delayed speech and language development0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000750HP:0000750Delayed speech and language development0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000750HP:0000750Delayed speech and language development0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0000750HP:0000750Delayed speech and language development0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000750HP:0000750Delayed speech and language development0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000750HP:0000750Delayed speech and language development0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0000750HP:0000750Delayed speech and language development0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0000750HP:0000750Delayed speech and language development0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0000750HP:0000750Delayed speech and language development0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000750HP:0000750Delayed speech and language development0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000750HP:0000750Delayed speech and language development0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0000750HP:0000750Delayed speech and language development0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0000750HP:0000750Delayed speech and language development0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features5
HP:0000750HP:0001344Absent speech1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0000750HP:0001344Absent speech1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0000750HP:0001344Absent speech1ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0000750HP:0001344Absent speech1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000750HP:0001344Absent speech1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000750HP:0001344Absent speech1ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0000750HP:0010863Receptive language delay1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000750HP:0001344Absent speech1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000750HP:0002474Expressive language delay1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0000750HP:0001344Absent speech1AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0000750HP:0001344Absent speech1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0000750HP:0001344Absent speech1ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0000750HP:0001344Absent speech1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000750HP:0010863Receptive language delay1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000750HP:0001344Absent speech1AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0000750HP:0001344Absent speech1ARFGEF1 CL E G H1056515772OMIM:619964
HP:0000750HP:0001344Absent speech1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000750HP:0001344Absent speech1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000750HP:0002474Expressive language delay1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000750HP:0001344Absent speech1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000750HP:0001344Absent speech1ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000750HP:0001344Absent speech1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0000750HP:0001344Absent speech1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0000750HP:0002474Expressive language delay1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000750HP:0001344Absent speech1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000750HP:0001344Absent speech1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000750HP:0001344Absent speech1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000750HP:0001344Absent speech1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000750HP:0001344Absent speech1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0000750HP:0001344Absent speech1ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000750HP:0001344Absent speech1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000750HP:0001344Absent speech1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000750HP:0001344Absent speech1BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0000750HP:0001344Absent speech1BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000750HP:0001344Absent speech1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000750HP:0001344Absent speech1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000750HP:0001344Absent speech1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000750HP:0001344Absent speech1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0000750HP:0001344Absent speech1CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0000750HP:0001344Absent speech1CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0000750HP:0001344Absent speech1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0000750HP:0001344Absent speech1CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0000750HP:0001344Absent speech1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0000750HP:0001344Absent speech1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0000750HP:0001344Absent speech1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000750HP:0001344Absent speech1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0000750HP:0001344Absent speech1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0000750HP:0001344Absent speech1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000750HP:0001344Absent speech1CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0000750HP:0001344Absent speech1CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3.11
HP:0000750HP:0001344Absent speech1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000750HP:0001344Absent speech1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000750HP:0001344Absent speech1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000750HP:0001344Absent speech1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare200
HP:0000750HP:0001344Absent speech1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000750HP:0001344Absent speech1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000750HP:0002474Expressive language delay1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0000750HP:0001344Absent speech1CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0000750HP:0001344Absent speech1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000750HP:0001344Absent speech1CHKA CL E G H11191937OMIM:620023
HP:0000750HP:0001344Absent speech1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000750HP:0001344Absent speech1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000750HP:0001344Absent speech1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000750HP:0001344Absent speech1CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000750HP:0001344Absent speech1CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0000750HP:0001344Absent speech1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0000750HP:0001344Absent speech1CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000750HP:0001344Absent speech1CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0000750HP:0001344Absent speech1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000750HP:0001344Absent speech1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000750HP:0001344Absent speech1CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0000750HP:0010863Receptive language delay1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000750HP:0001344Absent speech1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000750HP:0001344Absent speech1CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000750HP:0001344Absent speech1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0000750HP:0001344Absent speech1COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0000750HP:0001344Absent speech1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000750HP:0001344Absent speech1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000750HP:0001344Absent speech1CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000750HP:0001344Absent speech1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0000750HP:0001344Absent speech1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000750HP:0001344Absent speech1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000750HP:0001344Absent speech1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000750HP:0001344Absent speech1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000750HP:0001344Absent speech1CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0000750HP:0001344Absent speech1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000750HP:0001344Absent speech1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0000750HP:0001344Absent speech1CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0000750HP:0001344Absent speech1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0000750HP:0001344Absent speech1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000750HP:0001344Absent speech1DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000750HP:0001344Absent speech1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000750HP:0001344Absent speech1DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0000750HP:0001344Absent speech1DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0000750HP:0001344Absent speech1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0000750HP:0001344Absent speech1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0000750HP:0001344Absent speech1DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000750HP:0001344Absent speech1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000750HP:0001344Absent speech1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000750HP:0001344Absent speech1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare22
HP:0000750HP:0001344Absent speech1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000750HP:0001344Absent speech1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000750HP:0002474Expressive language delay1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0000750HP:0001344Absent speech1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000750HP:0001344Absent speech1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare3
HP:0000750HP:0001344Absent speech1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000750HP:0001344Absent speech1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000750HP:0002474Expressive language delay1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0000750HP:0001344Absent speech1DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0000750HP:0001344Absent speech1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0000750HP:0001344Absent speech1DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0000750HP:0001344Absent speech1DOHH CL E G H8347528662OMIM:620066
HP:0000750HP:0001344Absent speech1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000750HP:0001344Absent speech1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0000750HP:0001344Absent speech1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000750HP:0001344Absent speech1DPH5 CL E G H5161124270OMIM:620070
HP:0000750HP:0001344Absent speech1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0000750HP:0001344Absent speech1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000750HP:0002474Expressive language delay1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0000750HP:0001344Absent speech1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000750HP:0001344Absent speech1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0000750HP:0001344Absent speech1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0000750HP:0001344Absent speech1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0000750HP:0001344Absent speech1EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0000750HP:0001344Absent speech1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0000750HP:0002474Expressive language delay1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0000750HP:0010863Receptive language delay1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0000750HP:0001344Absent speech1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000750HP:0001344Absent speech1EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0000750HP:0001344Absent speech1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0000750HP:0001344Absent speech1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000750HP:0001344Absent speech1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0000750HP:0001344Absent speech1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040281 - Very frequent18
HP:0000750HP:0001344Absent speech1ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0000750HP:0001344Absent speech1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0000750HP:0001344Absent speech1EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000750HP:0001344Absent speech1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000750HP:0001344Absent speech1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0000750HP:0001344Absent speech1FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0000750HP:0001344Absent speech1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000750HP:0001344Absent speech1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare17
HP:0000750HP:0001344Absent speech1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000750HP:0001344Absent speech1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000750HP:0002474Expressive language delay1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0000750HP:0001344Absent speech1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare172
HP:0000750HP:0001344Absent speech1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000750HP:0001344Absent speech1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000750HP:0001344Absent speech1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000750HP:0010863Receptive language delay1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000750HP:0002474Expressive language delay1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000750HP:0001344Absent speech1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0000750HP:0001344Absent speech1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000750HP:0001344Absent speech1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000750HP:0001344Absent speech1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare48
HP:0000750HP:0001344Absent speech1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000750HP:0001344Absent speech1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000750HP:0002474Expressive language delay1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0000750HP:0002474Expressive language delay1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040281 - Very frequent184
HP:0000750HP:0010863Receptive language delay1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040282 - Frequent143
HP:0000750HP:0002474Expressive language delay1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040282 - Frequent143
HP:0000750HP:0001344Absent speech1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0000750HP:0001344Absent speech1FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.1
HP:0000750HP:0001344Absent speech1FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000750HP:0001344Absent speech1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0000750HP:0001344Absent speech1GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0000750HP:0001344Absent speech1GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0000750HP:0001344Absent speech1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0000750HP:0001344Absent speech1GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0000750HP:0001344Absent speech1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0000750HP:0001344Absent speech1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000750HP:0001344Absent speech1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare2
HP:0000750HP:0001344Absent speech1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000750HP:0001344Absent speech1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000750HP:0002474Expressive language delay1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0000750HP:0001344Absent speech1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0000750HP:0001344Absent speech1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0000750HP:0001344Absent speech1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000750HP:0001344Absent speech1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare173
HP:0000750HP:0001344Absent speech1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000750HP:0001344Absent speech1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000750HP:0002474Expressive language delay1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0000750HP:0001344Absent speech1GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0000750HP:0001344Absent speech1GNAI1 CL E G H27704384OMIM:619854
HP:0000750HP:0001344Absent speech1GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17.36
HP:0000750HP:0001344Absent speech1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0000750HP:0002474Expressive language delay1GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040282 - Frequent12
HP:0000750HP:0010863Receptive language delay1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000750HP:0002474Expressive language delay1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000750HP:0001344Absent speech1GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0000750HP:0001344Absent speech1GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia7
HP:0000750HP:0002474Expressive language delay1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000750HP:0002474Expressive language delay1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0000750HP:0001344Absent speech1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000750HP:0001344Absent speech1GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000750HP:0001344Absent speech1GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0000750HP:0010863Receptive language delay1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0000750HP:0001344Absent speech1GRIA1 CL E G H28904571OMIM:6199313
HP:0000750HP:0001344Absent speech1GRIA1 CL E G H28904571OMIM:6199273
HP:0000750HP:0001344Absent speech1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000750HP:0002474Expressive language delay1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0000750HP:0001344Absent speech1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000750HP:0001344Absent speech1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000750HP:0001344Absent speech1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0000750HP:0001344Absent speech1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0000750HP:0001344Absent speech1GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0000750HP:0001344Absent speech1GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0000750HP:0001344Absent speech1GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0000750HP:0001344Absent speech1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000750HP:0001344Absent speech1GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0000750HP:0001344Absent speech1H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000750HP:0001344Absent speech1HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000750HP:0001344Absent speech1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000750HP:0001344Absent speech1HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000750HP:0002474Expressive language delay1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000750HP:0001344Absent speech1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000750HP:0001344Absent speech1HID1 CL E G H28398715736OMIM:619983
HP:0000750HP:0001344Absent speech1HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0000750HP:0001344Absent speech1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000750HP:0001344Absent speech1HNRNPH1 CL E G H31875041OMIM:620083
HP:0000750HP:0001344Absent speech1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000750HP:0001344Absent speech1HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0000750HP:0001344Absent speech1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0000750HP:0001344Absent speech1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0000750HP:0001344Absent speech1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0000750HP:0001344Absent speech1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000750HP:0001344Absent speech1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040282 - Frequent
HP:0000750HP:0001344Absent speech1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0000750HP:0001344Absent speech1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000750HP:0001344Absent speech1INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0000750HP:0001344Absent speech1IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000750HP:0001344Absent speech1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0000750HP:0001344Absent speech1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0000750HP:0001344Absent speech1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000750HP:0001344Absent speech1ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0000750HP:0001344Absent speech1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000750HP:0001344Absent speech1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000750HP:0001344Absent speech1KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0000750HP:0001344Absent speech1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0000750HP:0001344Absent speech1KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0000750HP:0001344Absent speech1KCNC2 CL E G H37476234OMIM:619913
HP:0000750HP:0001344Absent speech1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000750HP:0001344Absent speech1KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0000750HP:0001344Absent speech1KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 46.5
HP:0000750HP:0001344Absent speech1KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0000750HP:0001344Absent speech1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000750HP:0001344Absent speech1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0000750HP:0001344Absent speech1KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0000750HP:0001344Absent speech1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0000750HP:0001344Absent speech1KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000750HP:0010863Receptive language delay1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0000750HP:0002474Expressive language delay1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0000750HP:0001344Absent speech1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000750HP:0001344Absent speech1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000750HP:0001344Absent speech1LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000750HP:0001344Absent speech1LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0000750HP:0001344Absent speech1LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0000750HP:0001344Absent speech1LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0000750HP:0001344Absent speech1LMAN2L CL E G H8156219263OMIM:6178631
HP:0000750HP:0001344Absent speech1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000750HP:0001344Absent speech1LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0000750HP:0001344Absent speech1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0001344Absent speech1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0000750HP:0001344Absent speech1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000750HP:0001344Absent speech1MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0000750HP:0001344Absent speech1MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0000750HP:0001344Absent speech1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0000750HP:0001344Absent speech1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0000750HP:0001344Absent speech1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000750HP:0001344Absent speech1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000750HP:0001344Absent speech1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0000750HP:0001344Absent speech1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000750HP:0002474Expressive language delay1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0000750HP:0001344Absent speech1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000750HP:0001344Absent speech1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000750HP:0001344Absent speech1MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0000750HP:0001344Absent speech1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0000750HP:0001344Absent speech1MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000750HP:0001344Absent speech1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000750HP:0001344Absent speech1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0001344Absent speech1MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0000750HP:0001344Absent speech1MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0000750HP:0001344Absent speech1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000750HP:0001344Absent speech1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000750HP:0001344Absent speech1NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0000750HP:0001344Absent speech1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0000750HP:0001344Absent speech1NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive.
HP:0000750HP:0001344Absent speech1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000750HP:0001344Absent speech1NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0000750HP:0001344Absent speech1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000750HP:0001344Absent speech1NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0000750HP:0001344Absent speech1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0000750HP:0001344Absent speech1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000750HP:0001344Absent speech1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare45
HP:0000750HP:0001344Absent speech1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000750HP:0001344Absent speech1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000750HP:0002474Expressive language delay1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0000750HP:0001344Absent speech1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000750HP:0001344Absent speech1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000750HP:0002474Expressive language delay1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000750HP:0001344Absent speech1NSRP1 CL E G H8408125305OMIM:620001
HP:0000750HP:0001344Absent speech1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000750HP:0001344Absent speech1NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0000750HP:0001344Absent speech1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0000750HP:0001344Absent speech1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0000750HP:0001344Absent speech1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000750HP:0001344Absent speech1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000750HP:0001344Absent speech1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000750HP:0001344Absent speech1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000750HP:0010863Receptive language delay1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000750HP:0001344Absent speech1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000750HP:0001344Absent speech1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0001344Absent speech1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000750HP:0001344Absent speech1PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0000750HP:0001344Absent speech1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000750HP:0001344Absent speech1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000750HP:0001344Absent speech1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000750HP:0001344Absent speech1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000750HP:0001344Absent speech1PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 53.7
HP:0000750HP:0001344Absent speech1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000750HP:0001344Absent speech1PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0000750HP:0001344Absent speech1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000750HP:0001344Absent speech1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000750HP:0001344Absent speech1PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0000750HP:0001344Absent speech1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000750HP:0001344Absent speech1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0000750HP:0001344Absent speech1PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0000750HP:0001344Absent speech1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0000750HP:0001344Absent speech1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0000750HP:0002474Expressive language delay1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000750HP:0001344Absent speech1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000750HP:0001344Absent speech1POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000750HP:0001344Absent speech1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000750HP:0001344Absent speech1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000750HP:0001344Absent speech1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0000750HP:0001344Absent speech1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000750HP:0001344Absent speech1PPFIBP1 CL E G H84969249OMIM:620024
HP:0000750HP:0001344Absent speech1PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0000750HP:0001344Absent speech1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000750HP:0001344Absent speech1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0000750HP:0001344Absent speech1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0000750HP:0001344Absent speech1PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000750HP:0001344Absent speech1PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0000750HP:0001344Absent speech1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0000750HP:0001344Absent speech1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0001344Absent speech1PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0000750HP:0001344Absent speech1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0000750HP:0001344Absent speech1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000750HP:0001344Absent speech1PSMB1 CL E G H56899537OMIM:6200382
HP:0000750HP:0001344Absent speech1PSMC1 CL E G H57009547OMIM:6200711
HP:0000750HP:0001344Absent speech1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000750HP:0001344Absent speech1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare665
HP:0000750HP:0001344Absent speech1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000750HP:0001344Absent speech1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000750HP:0002474Expressive language delay1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0000750HP:0002474Expressive language delay1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000750HP:0001344Absent speech1PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0000750HP:0001344Absent speech1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0000750HP:0001344Absent speech1PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0000750HP:0001344Absent speech1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0000750HP:0001344Absent speech1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000750HP:0001344Absent speech1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0000750HP:0001344Absent speech1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000750HP:0001344Absent speech1RAB5IF CL E G H5596915870OMIM:616994
HP:0000750HP:0001344Absent speech1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0000750HP:0001344Absent speech1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0000750HP:0002474Expressive language delay1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0000750HP:0001344Absent speech1RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000750HP:0001344Absent speech1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000750HP:0001344Absent speech1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0000750HP:0001344Absent speech1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0000750HP:0001344Absent speech1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000750HP:0001344Absent speech1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0000750HP:0001344Absent speech1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000750HP:0001344Absent speech1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000750HP:0002474Expressive language delay1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0000750HP:0001344Absent speech1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000750HP:0001344Absent speech1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040281 - Very frequent34
HP:0000750HP:0001344Absent speech1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000750HP:0001344Absent speech1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0000750HP:0001344Absent speech1SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0000750HP:0002474Expressive language delay1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0000750HP:0002474Expressive language delay1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0000750HP:0002474Expressive language delay1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0000750HP:0002474Expressive language delay1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0000750HP:0001344Absent speech1SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0000750HP:0001344Absent speech1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000750HP:0010863Receptive language delay1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0000750HP:0002474Expressive language delay1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0000750HP:0010863Receptive language delay1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0000750HP:0001344Absent speech1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000750HP:0001344Absent speech1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare67
HP:0000750HP:0001344Absent speech1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000750HP:0001344Absent speech1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000750HP:0002474Expressive language delay1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0000750HP:0002474Expressive language delay1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000750HP:0001344Absent speech1SHQ1 CL E G H5516425543OMIM:619922
HP:0000750HP:0001344Absent speech1SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040283 - Occasional42
HP:0000750HP:0001344Absent speech1SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0000750HP:0001344Absent speech1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare32
HP:0000750HP:0001344Absent speech1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0002474Expressive language delay1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0000750HP:0001344Absent speech1SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0000750HP:0001344Absent speech1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000750HP:0001344Absent speech1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000750HP:0001344Absent speech1SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0000750HP:0001344Absent speech1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0000750HP:0001344Absent speech1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 39.44
HP:0000750HP:0001344Absent speech1SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0000750HP:0001344Absent speech1SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0000750HP:0001344Absent speech1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000750HP:0001344Absent speech1SLC38A3 CL E G H1099118044OMIM:619881
HP:0000750HP:0001344Absent speech1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0000750HP:0001344Absent speech1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000750HP:0001344Absent speech1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0000750HP:0001344Absent speech1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0000750HP:0001344Absent speech1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0000750HP:0001344Absent speech1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000750HP:0001344Absent speech1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000750HP:0001344Absent speech1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000750HP:0001344Absent speech1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000750HP:0001344Absent speech1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000750HP:0001344Absent speech1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000750HP:0001344Absent speech1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000750HP:0001344Absent speech1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000750HP:0001344Absent speech1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000750HP:0001344Absent speech1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000750HP:0001344Absent speech1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000750HP:0001344Absent speech1SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0000750HP:0001344Absent speech1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000750HP:0001344Absent speech1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0000750HP:0001344Absent speech1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000750HP:0001344Absent speech1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0000750HP:0001344Absent speech1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000750HP:0001344Absent speech1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000750HP:0001344Absent speech1SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0000750HP:0010863Receptive language delay1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0000750HP:0002474Expressive language delay1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0000750HP:0001344Absent speech1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0000750HP:0001344Absent speech1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0000750HP:0001344Absent speech1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000750HP:0001344Absent speech1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000750HP:0001344Absent speech1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000750HP:0002474Expressive language delay1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0000750HP:0001344Absent speech1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000750HP:0001344Absent speech1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0000750HP:0001344Absent speech1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000750HP:0001344Absent speech1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare99
HP:0000750HP:0001344Absent speech1STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive99
HP:0000750HP:0001344Absent speech1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000750HP:0001344Absent speech1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000750HP:0002474Expressive language delay1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0000750HP:0001344Absent speech1STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0000750HP:0001344Absent speech1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000750HP:0001344Absent speech1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0000750HP:0001344Absent speech1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0000750HP:0001344Absent speech1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000750HP:0001344Absent speech1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000750HP:0001344Absent speech1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040281 - Very frequent1
HP:0000750HP:0002474Expressive language delay1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000750HP:0001344Absent speech1TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0000750HP:0001344Absent speech1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0000750HP:0001344Absent speech1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000750HP:0001344Absent speech1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0000750HP:0001344Absent speech1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000750HP:0001344Absent speech1TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0000750HP:0001344Absent speech1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000750HP:0001344Absent speech1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000750HP:0001344Absent speech1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040282 - Frequent241
HP:0000750HP:0001344Absent speech1TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0000750HP:0001344Absent speech1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare1
HP:0000750HP:0001344Absent speech1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0002474Expressive language delay1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0000750HP:0001344Absent speech1TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome.12
HP:0000750HP:0001344Absent speech1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000750HP:0001344Absent speech1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare32
HP:0000750HP:0001344Absent speech1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0002474Expressive language delay1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000750HP:0001344Absent speech1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040283 - Occasional1
HP:0000750HP:0001344Absent speech1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0000750HP:0001344Absent speech1TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0000750HP:0001344Absent speech1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0000750HP:0001344Absent speech1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0000750HP:0001344Absent speech1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000750HP:0001344Absent speech1TMEM147 CL E G H1043030414OMIM:620075
HP:0000750HP:0001344Absent speech1TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040280 - Obligate33
HP:0000750HP:0001344Absent speech1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0000750HP:0001344Absent speech1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000750HP:0001344Absent speech1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000750HP:0001344Absent speech1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000750HP:0001344Absent speech1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000750HP:0001344Absent speech1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000750HP:0001344Absent speech1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0000750HP:0001344Absent speech1TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0000750HP:0001344Absent speech1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000750HP:0001344Absent speech1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000750HP:0001344Absent speech1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000750HP:0001344Absent speech1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000750HP:0001344Absent speech1TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0000750HP:0001344Absent speech1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000750HP:0001344Absent speech1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000750HP:0001344Absent speech1TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040281 - Very frequent21
HP:0000750HP:0002474Expressive language delay1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0000750HP:0001344Absent speech1UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0000750HP:0010863Receptive language delay1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0000750HP:0001344Absent speech1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000750HP:0001344Absent speech1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000750HP:0001344Absent speech1UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0000750HP:0001344Absent speech1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0000750HP:0001344Absent speech1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000750HP:0001344Absent speech1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000750HP:0001344Absent speech1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0000750HP:0001344Absent speech1UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0000750HP:0001344Absent speech1UFSP2 CL E G H5532525640OMIM:6200282
HP:0000750HP:0001344Absent speech1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000750HP:0001344Absent speech1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000750HP:0001344Absent speech1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0000750HP:0001344Absent speech1UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0000750HP:0001344Absent speech1USP27X CL E G H38985613486OMIM:300984MENTAL RETARDATION, X-LINKED 105; MRX1053
HP:0000750HP:0001344Absent speech1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000750HP:0001344Absent speech1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome.2
HP:0000750HP:0001344Absent speech1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000750HP:0001344Absent speech1VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0000750HP:0001344Absent speech1VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0000750HP:0001344Absent speech1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000750HP:0001344Absent speech1VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000750HP:0001344Absent speech1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000750HP:0001344Absent speech1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000750HP:0001344Absent speech1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0000750HP:0002474Expressive language delay1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000750HP:0001344Absent speech1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000750HP:0001344Absent speech1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000750HP:0001344Absent speech1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000750HP:0001344Absent speech1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000750HP:0001344Absent speech1WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0000750HP:0001344Absent speech1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0000750HP:0001344Absent speech1WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0000750HP:0002474Expressive language delay1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000750HP:0001344Absent speech1YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000750HP:0001344Absent speech1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000750HP:0001344Absent speech1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000750HP:0001344Absent speech1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000750HP:0001344Absent speech1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000750HP:0001344Absent speech1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040281 - Very frequent362
HP:0000750HP:0002474Expressive language delay1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040281 - Very frequent362
HP:0000750HP:0001344Absent speech1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040281 - Very frequent362
HP:0000750HP:0002474Expressive language delay1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040281 - Very frequent362
HP:0000750HP:0001344Absent speech1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000750HP:0001344Absent speech1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare34
HP:0000750HP:0001344Absent speech1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000750HP:0001344Absent speech1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000750HP:0002474Expressive language delay1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34
HP:0000750HP:0001344Absent speech1ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0000750HP:0011345Moderate expressive language delay2 CL E G H
HP:0000750HP:0011350Mild receptive language delay2 CL E G H
HP:0000750HP:0011346Mild expressive language delay2 CL E G H
HP:0000750HP:0006863Severe expressive language delay2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000750HP:0006863Severe expressive language delay2ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000750HP:0006863Severe expressive language delay2DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000750HP:0006863Severe expressive language delay2EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0000750HP:0011351Moderate receptive language delay2EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0000750HP:0011352Severe receptive language delay2GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000750HP:0006863Severe expressive language delay2GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000750HP:0006863Severe expressive language delay2HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000750HP:0006863Severe expressive language delay2KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0000750HP:0011351Moderate receptive language delay2KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0000750HP:0006863Severe expressive language delay2POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000750HP:0006863Severe expressive language delay2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000750HP:0011351Moderate receptive language delay2SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000750HP:0006863Severe expressive language delay2SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000750HP:0011351Moderate receptive language delay2SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000750HP:0006863Severe expressive language delay2SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0000750HP:0011352Severe receptive language delay2SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0000750HP:0006863Severe expressive language delay2TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21


Genes (989) :AARS1 AASS ABHD16A ACAD8 ACADM ACADS ACBD5 ACOX1 ACOX2 ACSF3 ACSL4 ACTL6B ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADGRL1 ADK ADNP ADSL AFF2 AGA AGO2 AGTPBP1 AHDC1 AIFM1 AIMP2 ALDH18A1 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALG11 ALG12 ALG13 ALG14 ALG2 ALMS1 AMER1 AMMECR1 AMN ANK3 ANKRD11 ANKRD17 AP1G1 AP2M1 AP3B2 AP4B1 APC2 ARF1 ARFGEF1 ARHGAP29 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL6 ARMC9 ARPC4 ARV1 ARX ASH1L ASPA ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATM ATN1 ATP10A ATP1A2 ATP1A3 ATP5F1D ATP6 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATXN3 AUH AUTS2 B3GALT6 BAP1 BBS1 BBS9 BCAS3 BCL11B BCORL1 BIN1 BLTP1 BMP4 BMPR1B BPTF BRAT1 BRCA1 BRF1 BRPF1 BRWD3 BSCL2 BTK C12ORF4 C19ORF12 C2CD3 CACNA1A CACNA1B CACNA1C CACNA1E CACNA2D1 CACNA2D2 CAMK2A CAMK2B CAMK2G CAMTA1 CARS1 CARS2 CASK CASZ1 CBL CC2D1A CCDC103 CCDC174 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCDC88A CCND2 CCNO CDC42 CDH1 CDK10 CDK13 CDK19 CDKN1C CDON CELF2 CENPJ CEP63 CERS1 CFAP221 CFAP298 CFAP300 CFAP418 CHAMP1 CHD2 CHD3 CHD5 CHD8 CHKA CHKB CHMP1A CIC CLCN3 CLCN4 CLDN11 CLIC2 CLN8 CLP1 CLPB CLTC CNKSR2 CNNM2 CNOT1 CNOT2 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG8 COL3A1 COPB1 COX20 CPLX1 CRADD CRAT CRBN CREBBP CSNK2A1 CSPP1 CTBP1 CTCF CTNNA2 CUBN CUL3 CUL4B CWC27 CWF19L1 CYFIP2 DAG1 DALRD3 DARS2 DCC DCPS DDX6 DEAF1 DEGS1 DENND5A DHDDS DHPS DHTKD1 DHX30 DISP1 DLG1 DLG3 DLK1 DLL1 DLX4 DMD DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC12 DNAL1 DNM1 DNM1L DNMT3A DOCK3 DOHH DOLK DPAGT1 DPF2 DPH5 DPM2 DPYD DPYS DPYSL5 DRC1 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYRK1A EARS2 EBF3 EED EEF1A2 EFTUD2 EHMT1 EIF2AK1 EIF2AK2 EIF2S3 EIF3F EIF4A3 ELP2 EMC1 EMC10 EN1 EP300 ERCC2 ERF ERLIN2 ERMARD EXOSC2 EXOSC3 EXOSC5 EXT2 EXTL3 EZH2 FANCF FAR1 FARS2 FBLN1 FBXL3 FBXO11 FBXW11 FBXW7 FDXR FGF12 FGF13 FGF8 FGFR1 FIBP FIG4 FKRP FKTN FLCN FLII FLNA FMN2 FMR1 FOCAD FOXG1 FOXH1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA16E FRMD4A FRMPD4 FRRS1L FTCD FTSJ1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALE GALNT2 GALT GAMT GAS1 GAS2L2 GAS8 GATM GCDH GEMIN4 GEMIN5 GFM2 GJA5 GJA8 GLI2 GLRA2 GLS GLYCTK GMNN GMPPA GMPPB GNAI1 GNAO1 GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GORAB GOT2 GPAA1 GPC3 GPC4 GPT2 GRB10 GRHL3 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GSX2 H3-3A H4C11 H4C5 HACE1 HCN1 HCN4 HDAC4 HEPACAM HERC1 HERC2 HID1 HIKESHI HIVEP2 HK1 HMGA2 HNMT HNRNPH1 HNRNPH2 HNRNPU HOXA2 HOXB1 HS2ST1 HS6ST2 HSD17B10 HSPG2 HTT HUWE1 HYDIN IARS1 IFIH1 IFT172 IFT74 IGF1R IGF2 INPP5E INTS1 INTS8 INTU IPW IQSEC1 IQSEC2 IREB2 IRF2BPL IRF6 ISCA2 ITPR1 JAG1 JAG2 KANSL1 KARS1 KAT6A KAT6B KAT8 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNK4 KCNMA1 KCNN2 KCNQ5 KCTD7 KDM1A KDM3B KDM4B KDM5B KDM5C KIAA0586 KIAA0753 KIDINS220 KIF15 KIF1A KIF4A KIF5C KLHL15 KMT2A KMT2B KMT2C KMT2E KMT5B KNL1 KPTN KYNU L1CAM LAGE3 LAMA1 LARGE1 LAS1L LEMD3 LIG4 LINGO1 LINS1 LIPT2 LMAN2L LMBRD2 LMNB1 LMNB2 LMX1B LNPK LRP5 LRPPRC LRRC32 LRRC56 LSS LTBP4 LUZP1 MACF1 MADD MAGEL2 MAN2B1 MAN2C1 MAP1B MAPK1 MAPRE2 MBD5 MBOAT7 MCIDAS MCM3AP MCOLN1 MCTP2 MDH2 MECP2 MED12 MED12L MED13 MED13L MED23 MED25 MED27 MEF2C MEG3 MEIS2 MESD METTL5 MFF MFSD2A MFSD8 MICU1 MINPP1 MKRN3 MKRN3-AS1 MKS1 MMP23B MN1 MORC2 MPDU1 MRAS MRE11 MRPL12 MRPS14 MRPS34 MSL3 MSTO1 MSX1 MTFMT MTPAP MYO9A MYRF MYT1L NAA15 NACC1 NALCN NARS1 NAXD NBEA NBN NCAPD2 NCAPG2 NCDN NDST1 NDUFA4 NDUFA8 NECAP1 NECTIN1 NEDD4L NEK1 NEK10 NEMF NEXMIF NF1 NFE2L2 NFIX NGLY1 NIPA1 NIPA2 NIPBL NLGN3 NLGN4X NME8 NODAL NONO NOVA2 NPAP1 NR2F1 NR4A2 NRAS NSD1 NSDHL NSRP1 NSUN2 NTNG2 NTRK2 NUDT2 NUP107 NUP62 NUS1 NXN OCA2 ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OPHN1 ORC6 OSGEP OTUD6B PACS1 PACS2 PAK1 PAK3 PARS2 PBX1 PCDH19 PCYT2 PDE2A PDE4D PDGFRA PDPN PEX1 PGAP1 PGAP2 PGK1 PHF21A PHF8 PHKA2 PHKB PHKG2 PI4KA PIGA PIGF PIGG PIGM PIGN PIGO PIGP PIGS PIGV PIGW PIK3R1 PLA2G6 PLAA PLAG1 PLCH1 PLP1 PLPBP PMM2 PMPCA PMPCB PNPT1 POGZ POLR1D POLR3B POLR3K POLRMT POMGNT2 POMT1 POMT2 POR POU3F3 POU4F1 PPFIBP1 PPIL1 PPM1D PPP1CB PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM16 PRKAR1A PRKAR1B PRKCZ PRKD1 PRKRA PRMT7 PRNP PRODH PRPS1 PRR12 PRUNE1 PSMB1 PSMC1 PSMD12 PSMG2 PTCH1 PTS PUF60 PUM1 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP2 RAB5IF RAC1 RAI1 RALA RALGAPA1 RARS2 REPS1 RERE RFC1 RHOBTB2 RIMS2 RLIM RMND1 RNASET2 RNF125 RNU7-1 RORA RORB RPGR RPL10 RPS6KA3 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTL1 RTTN RUBCN RUSC2 RYR1 SATB1 SATB2 SCN1A SCN3A SCN8A SCNM1 SDHA SDHAF1 SDHB SDHD SEC23A SELENOI SEMA6B SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SFXN4 SGCB SH2B1 SHANK3 SHH SHMT2 SHQ1 SHROOM4 SIAH1 SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A3 SLC1A4 SLC25A12 SLC25A42 SLC25A46 SLC2A1 SLC30A9 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC44A1 SLC6A1 SLC6A17 SLC6A3 SLC6A8 SLC9A6 SLC9A7 SMAD6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SMS SNORD115-1 SNORD116-1 SNRPN SNX14 SOBP SOD1 SOX11 SOX4 SOX5 SPAG1 SPARC SPART SPATA5 SPEF2 SPEG SPEN SPOP SPR SPRED1 SPTBN1 SPTBN2 SPTBN4 SRCAP SRPX2 ST3GAL5 STAG1 STAG2 STIL STK36 STRADA STT3A STXBP1 SUOX SUPT16H SVBP SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TAF2 TAF8 TANC2 TANGO2 TAOK1 TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX4 TCF20 TCF4 TCTN2 TDGF1 TECR TELO2 TENM3 TENT5A TET3 TFE3 TGIF1 TH THOC2 THOC6 THRB THUMPD1 TIAM1 TIMM50 TINF2 TKFC TKT TLK2 TM4SF20 TMCO1 TMEM106B TMEM147 TMEM222 TMEM231 TMEM63C TMEM94 TMLHE TMTC3 TNIK TNPO2 TNR TNRC6B TOE1 TOGARAM1 TOR1A TP53RK TP63 TPK1 TPP1 TPRN TRAF7 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2L TRAPPC6B TRAPPC9 TREX1 TRIM8 TRIO TRIP12 TRIP4 TRIT1 TRMT1 TRPV6 TRRAP TSEN15 TSHR TSPAN7 TSPOAP1 TTC12 TTC5 TTI2 TTN TUBA8 TUBB TUBB3 TUBB4A TUBG1 TWIST2 UBA2 UBA5 UBB UBE2A UBE3A UBE3B UBE4A UBE4B UBTF UFC1 UFM1 UFSP2 UGP2 UGT1A1 UNC80 UQCRQ USP27X USP7 USP9X VAC14 VARS1 VLDLR VPS11 VPS33A VPS37A VPS41 VPS4A WAC WARS2 WASF1 WASHC4 WDR26 WDR37 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WIPI2 WLS WWOX XRCC4 XYLT1 YARS1 YIF1B YME1L1 YWHAG YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZEB2 ZIC2 ZMIZ1 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF292 ZNF407 ZNF462 ZNF711 ZSWIM6

Diseases (1068) :ORPHA:442835 ORPHA:2203 OMIM:238700 OMIM:619735 ORPHA:79159 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:618863 OMIM:618960 OMIM:617308 ORPHA:289504 OMIM:300387 OMIM:618468 OMIM:618470 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:619647 OMIM:619651 OMIM:617008 ORPHA:98889 OMIM:620065 OMIM:614300 ORPHA:404448 OMIM:103050 ORPHA:46 ORPHA:100973 OMIM:309548 ORPHA:93 OMIM:208400 OMIM:619149 OMIM:618276 ORPHA:412069 OMIM:615829 ORPHA:238329 OMIM:618006 ORPHA:447760 OMIM:616586 ORPHA:79101 OMIM:271980 OMIM:266100 ORPHA:57 OMIM:613661 ORPHA:79324 ORPHA:324422 OMIM:619031 OMIM:607906 ORPHA:64 OMIM:300373 OMIM:300990 ORPHA:35858 ORPHA:356996 OMIM:615493 ORPHA:261250 OMIM:619504 OMIM:619467 OMIM:619548 ORPHA:1942 OMIM:617276 OMIM:614066 OMIM:618677 OMIM:617169 OMIM:618185 OMIM:619964 ORPHA:199306 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:209900 OMIM:617622 OMIM:620141 OMIM:309510 ORPHA:94083 OMIM:617796 ORPHA:314918 ORPHA:314911 OMIM:608716 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 OMIM:617183 OMIM:619422 OMIM:208900 OMIM:618494 ORPHA:411515 ORPHA:2131 OMIM:619605 OMIM:618120 OMIM:300423 ORPHA:93952 OMIM:619970 ORPHA:357074 ORPHA:2834 OMIM:278250 OMIM:617403 OMIM:618012 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 ORPHA:536467 OMIM:619762 OMIM:615986 OMIM:619641 OMIM:617237 OMIM:618092 OMIM:301029 ORPHA:169186 OMIM:617822 OMIM:607932 OMIM:616849 ORPHA:529962 OMIM:617755 OMIM:618056 OMIM:617883 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:615924 ORPHA:363400 OMIM:300755 OMIM:618221 OMIM:614298 OMIM:615948 OMIM:618497 OMIM:620029 OMIM:618285 OMIM:618501 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 OMIM:614756 ORPHA:314647 OMIM:618891 ORPHA:477774 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 OMIM:608443 ORPHA:244 OMIM:616816 OMIM:618268 OMIM:617507 OMIM:615938 ORPHA:487796 OMIM:616737 OMIM:617694 OMIM:617360 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:619561 OMIM:608393 OMIM:614728 OMIM:616230 OMIM:617406 OMIM:616579 OMIM:618205 OMIM:619873 OMIM:615032 OMIM:620023 OMIM:602541 OMIM:614961 OMIM:617600 OMIM:619512 OMIM:619517 OMIM:300114 OMIM:619328 OMIM:300886 ORPHA:324410 OMIM:600143 ORPHA:1947 ORPHA:411493 OMIM:615803 OMIM:619835 OMIM:617854 OMIM:301008 OMIM:616418 OMIM:619033 OMIM:618608 ORPHA:163681 OMIM:610042 OMIM:619061 ORPHA:436271 OMIM:611209 ORPHA:263501 OMIM:613489 OMIM:618150 ORPHA:263487 OMIM:613612 ORPHA:363523 OMIM:615328 OMIM:611182 OMIM:618343 OMIM:619255 OMIM:619054 OMIM:617976 ORPHA:352582 OMIM:614499 OMIM:617917 OMIM:607417 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:617062 ORPHA:397715 OMIM:617915 ORPHA:363611 OMIM:618174 OMIM:619239 OMIM:300354 ORPHA:85293 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 OMIM:618008 ORPHA:370997 OMIM:616538 OMIM:613818 OMIM:618910 ORPHA:137898 OMIM:617542 OMIM:616459 OMIM:618653 OMIM:617171 ORPHA:468620 ORPHA:819 OMIM:618404 OMIM:617281 OMIM:617836 OMIM:618480 OMIM:204750 OMIM:617804 OMIM:300850 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:98896 ORPHA:589821 OMIM:617384 OMIM:616346 ORPHA:330050 OMIM:618724 OMIM:618292 OMIM:620066 ORPHA:91131 ORPHA:86309 OMIM:618027 OMIM:620070 ORPHA:329178 ORPHA:293948 OMIM:274270 ORPHA:1675 OMIM:222748 OMIM:619435 ORPHA:239 OMIM:614228 OMIM:618492 OMIM:615633 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:614924 OMIM:617330 OMIM:617561 OMIM:616409 OMIM:616393 OMIM:610536 ORPHA:79113 OMIM:610253 ORPHA:261652 OMIM:618878 OMIM:618877 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:619218 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:601675 OMIM:617180 OMIM:600775 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 OMIM:615544 OMIM:617763 OMIM:614678 OMIM:619576 ORPHA:466926 ORPHA:508533 OMIM:277590 OMIM:603467 OMIM:619338 ORPHA:466722 ORPHA:404451 OMIM:606220 OMIM:618089 OMIM:618914 OMIM:620012 ORPHA:543470 OMIM:617166 OMIM:166250 OMIM:190440 ORPHA:500095 ORPHA:208441 OMIM:236670 ORPHA:272 OMIM:610883 OMIM:300321 OMIM:616193 ORPHA:449291 OMIM:619991 ORPHA:261144 OMIM:613454 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:602081 OMIM:618241 OMIM:136570 OMIM:616819 ORPHA:466688 OMIM:300983 OMIM:616981 ORPHA:51208 OMIM:309549 OMIM:617904 OMIM:617829 OMIM:618396 OMIM:230350 OMIM:618885 ORPHA:79239 OMIM:612736 OMIM:612718 OMIM:231670 OMIM:617913 OMIM:619333 ORPHA:565624 OMIM:618397 OMIM:612474 OMIM:301076 OMIM:618412 ORPHA:941 OMIM:616835 OMIM:615510 OMIM:615350 OMIM:619854 OMIM:615473 OMIM:617493 ORPHA:79445 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 ORPHA:3166 ORPHA:576 OMIM:252940 OMIM:231070 OMIM:618721 OMIM:617810 ORPHA:529665 OMIM:312870 OMIM:616281 ORPHA:477673 ORPHA:96182 ORPHA:99772 OMIM:619931 OMIM:619927 OMIM:618917 ORPHA:364028 OMIM:617864 OMIM:616204 OMIM:619580 OMIM:614254 OMIM:617820 OMIM:245570 ORPHA:163721 OMIM:616139 OMIM:617162 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:618646 OMIM:619720 OMIM:619759 OMIM:619950 ORPHA:464282 OMIM:615871 OMIM:618482 OMIM:619521 OMIM:619797 OMIM:613925 OMIM:617011 ORPHA:457359 OMIM:615516 OMIM:176270 OMIM:619983 OMIM:616881 OMIM:616977 OMIM:618547 ORPHA:94063 OMIM:616739 OMIM:620083 OMIM:300986 ORPHA:238769 OMIM:617391 ORPHA:83463 OMIM:614744 OMIM:619194 OMIM:301025 ORPHA:391428 OMIM:300438 OMIM:617435 OMIM:309590 ORPHA:541423 OMIM:615846 OMIM:619471 OMIM:617119 OMIM:270450 OMIM:213300 OMIM:610156 ORPHA:75858 OMIM:618571 OMIM:618572 OMIM:617926 OMIM:618687 OMIM:309530 ORPHA:217377 ORPHA:397933 OMIM:618451 OMIM:618088 OMIM:616370 OMIM:117360 ORPHA:208513 OMIM:118450 OMIM:619566 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:616268 ORPHA:85201 OMIM:618974 ORPHA:37612 OMIM:616366 OMIM:618284 OMIM:616056 OMIM:619913 ORPHA:420561 ORPHA:199343 OMIM:612780 OMIM:618381 OMIM:618729 OMIM:619725 OMIM:617601 OMIM:611726 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:619479 OMIM:617296 ORPHA:261323 OMIM:614255 OMIM:300923 OMIM:615282 OMIM:300982 OMIM:605130 ORPHA:319182 OMIM:617284 OMIM:617768 OMIM:618512 OMIM:617788 OMIM:604321 ORPHA:397612 OMIM:615637 OMIM:617661 ORPHA:2466 OMIM:301006 ORPHA:370022 OMIM:615960 OMIM:309585 OMIM:606593 OMIM:618103 OMIM:614340 OMIM:617668 OMIM:617863 OMIM:619694 OMIM:619179 OMIM:619180 ORPHA:495818 OMIM:618090 ORPHA:2788 OMIM:220111 OMIM:619074 OMIM:618840 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 ORPHA:309288 ORPHA:309282 OMIM:619775 OMIM:618918 OMIM:619087 OMIM:616734 ORPHA:228402 OMIM:617188 OMIM:618124 OMIM:252650 ORPHA:578 ORPHA:1596 OMIM:617339 OMIM:300496 OMIM:300260 OMIM:300055 ORPHA:778 ORPHA:93932 OMIM:300895 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:614249 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 ORPHA:261190 OMIM:618644 OMIM:618665 OMIM:617086 OMIM:616486 OMIM:610951 OMIM:615673 OMIM:619527 OMIM:617121 OMIM:249000 OMIM:618774 OMIM:619090 OMIM:609180 OMIM:618499 ORPHA:251347 OMIM:618951 OMIM:618378 OMIM:617664 OMIM:301032 ORPHA:502423 OMIM:617675 OMIM:614947 OMIM:613672 OMIM:618198 OMIM:618113 OMIM:616521 OMIM:617787 OMIM:617393 OMIM:616266 ORPHA:371364 OMIM:619091 OMIM:619092 OMIM:618321 OMIM:619157 OMIM:251260 OMIM:617983 OMIM:618460 OMIM:619373 OMIM:616116 OMIM:619065 OMIM:619272 OMIM:617201 OMIM:263520 OMIM:619099 OMIM:300912 ORPHA:85277 ORPHA:139474 OMIM:601321 OMIM:617744 ORPHA:447980 OMIM:602535 OMIM:614753 ORPHA:404454 ORPHA:261183 OMIM:122470 OMIM:300425 OMIM:300495 ORPHA:466791 OMIM:300967 OMIM:618859 ORPHA:401777 OMIM:619911 OMIM:613224 OMIM:117550 ORPHA:251383 OMIM:300831 OMIM:620001 OMIM:611091 OMIM:618718 OMIM:617830 OMIM:619844 OMIM:618348 OMIM:616730 OMIM:617831 OMIM:618529 ORPHA:98794 OMIM:619075 ORPHA:544488 OMIM:203740 OMIM:300486 OMIM:613803 OMIM:617729 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:618158 OMIM:300558 OMIM:618437 OMIM:617641 ORPHA:101039 OMIM:618770 OMIM:619150 OMIM:614613 ORPHA:280651 OMIM:214100 OMIM:601539 OMIM:615802 OMIM:614207 ORPHA:713 OMIM:300653 OMIM:618725 OMIM:300263 ORPHA:264580 ORPHA:79240 OMIM:619708 OMIM:300868 OMIM:301072 OMIM:619356 ORPHA:488635 OMIM:616917 OMIM:610293 OMIM:614080 OMIM:614749 OMIM:617599 OMIM:618143 OMIM:239300 OMIM:616025 OMIM:269880 ORPHA:35069 OMIM:256600 OMIM:610217 ORPHA:521426 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:617290 OMIM:212065 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:617954 ORPHA:319514 OMIM:614932 OMIM:616364 ORPHA:468678 OMIM:613717 OMIM:619742 OMIM:614381 OMIM:619310 OMIM:619743 OMIM:618135 OMIM:613155 ORPHA:86812 ORPHA:95699 OMIM:618604 OMIM:620024 OMIM:619301 OMIM:617450 OMIM:617506 OMIM:618354 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:616355 OMIM:617711 OMIM:619680 OMIM:617364 OMIM:612067 OMIM:617157 ORPHA:157941 OMIM:239500 OMIM:301835 OMIM:619539 OMIM:617481 ORPHA:544469 OMIM:620038 OMIM:620071 OMIM:617516 OMIM:619183 ORPHA:13 ORPHA:508488 OMIM:617931 OMIM:616158 ORPHA:314655 ORPHA:488627 OMIM:618342 OMIM:614438 OMIM:616420 ORPHA:481152 OMIM:617982 OMIM:617807 OMIM:614222 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:617751 ORPHA:500159 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:611523 OMIM:617916 ORPHA:504476 OMIM:618004 OMIM:618970 OMIM:300978 OMIM:614922 OMIM:612951 OMIM:616260 OMIM:619487 OMIM:618060 OMIM:618357 OMIM:300998 ORPHA:459070 OMIM:300844 OMIM:268315 OMIM:619453 ORPHA:457395 OMIM:618402 OMIM:614833 ORPHA:404499 OMIM:615705 OMIM:617773 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:619317 OMIM:617935 OMIM:617938 OMIM:614306 OMIM:620107 ORPHA:3208 OMIM:619224 ORPHA:50814 OMIM:618768 OMIM:618876 OMIM:614739 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:245 OMIM:615578 ORPHA:119 ORPHA:261222 ORPHA:261197 ORPHA:329249 ORPHA:48652 OMIM:606232 OMIM:619121 OMIM:619922 ORPHA:85288 OMIM:619314 OMIM:616341 OMIM:618162 ORPHA:171829 ORPHA:398079 OMIM:613406 OMIM:619083 OMIM:619080 OMIM:218000 ORPHA:59 OMIM:604369 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:612949 OMIM:618416 OMIM:616505 ORPHA:71277 OMIM:606777 OMIM:608885 OMIM:617595 OMIM:614482 OMIM:300896 OMIM:619881 OMIM:617013 OMIM:618868 OMIM:616269 ORPHA:238455 OMIM:300352 ORPHA:52503 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:617439 OMIM:619293 ORPHA:2728 OMIM:601358 OMIM:618362 OMIM:618779 OMIM:616938 OMIM:301044 OMIM:619995 OMIM:241800 ORPHA:3063 OMIM:105830 OMIM:209850 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 OMIM:618598 ORPHA:313892 OMIM:616803 OMIM:616507 ORPHA:101000 OMIM:616577 ORPHA:457351 OMIM:619312 OMIM:618828 OMIM:618829 ORPHA:70594 ORPHA:137605 OMIM:619475 ORPHA:352403 OMIM:615386 OMIM:617519 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:609056 OMIM:617635 OMIM:301022 OMIM:612703 OMIM:611087 ORPHA:500533 OMIM:619714 OMIM:612164 OMIM:272300 OMIM:619480 OMIM:618569 ORPHA:544254 ORPHA:522077 OMIM:300966 ORPHA:480907 OMIM:615599 ORPHA:397951 OMIM:619972 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:615663 OMIM:617695 OMIM:248000 ORPHA:496641 OMIM:617193 OMIM:617207 OMIM:616900 ORPHA:488632 ORPHA:487825 OMIM:602342 OMIM:606053 ORPHA:1727 OMIM:188400 ORPHA:261279 OMIM:618430 ORPHA:2896 OMIM:610954 OMIM:616654 OMIM:614020 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:617952 OMIM:618798 OMIM:301066 ORPHA:101150 OMIM:605407 OMIM:300957 ORPHA:457240 ORPHA:363444 OMIM:188570 OMIM:619989 OMIM:619908 ORPHA:505216 OMIM:617698 OMIM:613990 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:615432 OMIM:213980 OMIM:617964 OMIM:620075 OMIM:619470 OMIM:614970 OMIM:619966 OMIM:618316 OMIM:300872 OMIM:617255 OMIM:617028 OMIM:619556 OMIM:619653 OMIM:619243 OMIM:614969 OMIM:619185 OMIM:618947 OMIM:617730 OMIM:614458 OMIM:204500 OMIM:613307 OMIM:618164 OMIM:620027 ORPHA:369840 OMIM:618351 OMIM:618331 OMIM:617862 OMIM:613192 OMIM:225750 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 ORPHA:486815 OMIM:617873 OMIM:618302 OMIM:618188 OMIM:618454 OMIM:617026 OMIM:609152 OMIM:300210 OMIM:619244 OMIM:615541 ORPHA:391307 ORPHA:250972 OMIM:615771 OMIM:156610 ORPHA:300570 OMIM:614039 OMIM:612438 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:619959 OMIM:617132 OMIM:300860 ORPHA:238446 OMIM:244450 OMIM:619639 ORPHA:500180 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618744 ORPHA:79234 OMIM:616801 OMIM:615159 OMIM:300984 ORPHA:500055 OMIM:616863 OMIM:300968 OMIM:617054 OMIM:617802 OMIM:224050 OMIM:616683 ORPHA:466934 ORPHA:505248 OMIM:617303 ORPHA:319199 OMIM:614898 OMIM:619389 OMIM:619273 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:618652 OMIM:618347 OMIM:618346 OMIM:300894 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:618453 OMIM:619648 ORPHA:284282 OMIM:616541 OMIM:615777 OMIM:619418 OMIM:619125 OMIM:617302 OMIM:617557 ORPHA:506358 OMIM:618383 OMIM:612337 OMIM:259050 OMIM:619769 OMIM:314580 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:618425 OMIM:619188 OMIM:619557 OMIM:618619 OMIM:300803 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.