Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Neurodevelopmental delay (HP:0012758)help
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Global developmental delay (HP:0001263)help
Term ID: 1263
Name: Global developmental delay
Synonym: Cognitive delay; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Mental and motor retardation; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development
Definition: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Comments:
Reference: HP:0001263
Genes and Diseases:
 
       Child Nodes:
........expandMild global developmental delay (HP:0011342) help
........expandModerate global developmental delay (HP:0011343) help
........expandSevere global developmental delay (HP:0011344) help
........expandProfound global developmental delay (HP:0012736) help

 Sister Nodes: 
..expandDelayed social development (HP:0012434) help
..expandDelayed speech and language development (HP:0000750) 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:0001263HP:0001263Global developmental delay0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0001263HP:0001263Global developmental delay0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0001263HP:0001263Global developmental delay0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001263HP:0001263Global developmental delay0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001263HP:0001263Global developmental delay0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0001263HP:0001263Global developmental delay0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001263HP:0001263Global developmental delay0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxiaHP:0040282 - Frequent35
HP:0001263HP:0001263Global developmental delay0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0001263HP:0001263Global developmental delay0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0001263HP:0001263Global developmental delay0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001263HP:0001263Global developmental delay0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0001263HP:0001263Global developmental delay0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndromeHP:0040284 - Very rare51
HP:0001263HP:0001263Global developmental delay0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiency58
HP:0001263HP:0001263Global developmental delay0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0001263HP:0001263Global developmental delay0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0001263HP:0001263Global developmental delay0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0001263HP:0001263Global developmental delay0ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency.
HP:0001263HP:0001263Global developmental delay0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0001263HP:0001263Global developmental delay0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0001263HP:0001263Global developmental delay0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001263HP:0001263Global developmental delay0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0001263HP:0001263Global developmental delay0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0001263HP:0001263Global developmental delay0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0001263HP:0001263Global developmental delay0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0001263HP:0001263Global developmental delay0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001263HP:0001263Global developmental delay0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0001263HP:0001263Global developmental delay0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria.68
HP:0001263HP:0001263Global developmental delay0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040283 - Occasional96
HP:0001263HP:0001263Global developmental delay0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001263HP:0001263Global developmental delay0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0001263HP:0001263Global developmental delay0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001263HP:0001263Global developmental delay0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0001263HP:0001263Global developmental delay0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0001263HP:0001263Global developmental delay0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040283 - Occasional13
HP:0001263HP:0001263Global developmental delay0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0001263HP:0001263Global developmental delay0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001263HP:0001263Global developmental delay0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001263HP:0001263Global developmental delay0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0001263HP:0001263Global developmental delay0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent88
HP:0001263HP:0001263Global developmental delay0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0001263HP:0001263Global developmental delay0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0001263HP:0001263Global developmental delay0ADGRL1 CL E G H2285920973OMIM:620065
HP:0001263HP:0001263Global developmental delay0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0001263HP:0001263Global developmental delay0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040281 - Very frequent47
HP:0001263HP:0001263Global developmental delay0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0001263HP:0001263Global developmental delay0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0001263HP:0001263Global developmental delay0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001263HP:0001263Global developmental delay0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiency118
HP:0001263HP:0001263Global developmental delay0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001263HP:0001263Global developmental delay0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0001263HP:0001263Global developmental delay0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0001263HP:0001263Global developmental delay0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0001263HP:0001263Global developmental delay0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0001263HP:0001263Global developmental delay0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040281 - Very frequent36
HP:0001263HP:0001263Global developmental delay0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0001263HP:0001263Global developmental delay0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0001263HP:0001263Global developmental delay0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0001263HP:0001263Global developmental delay0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001263HP:0001263Global developmental delay0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001263HP:0001263Global developmental delay0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0001263HP:0001263Global developmental delay0AKT3 CL E G H10000393ORPHA:99802Hemimegalencephaly19
HP:0001263HP:0001263Global developmental delay0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0001263HP:0001263Global developmental delay0ALB CL E G H213399ORPHA:86816Congenital analbuminemia104
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722ORPHA:35664ALDH18A1-related De Barsy syndromeHP:0040281 - Very frequent89
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001263HP:0001263Global developmental delay0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040281 - Very frequent74
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H7915408ORPHA:22Succinic semialdehyde dehydrogenase deficiencyHP:0040281 - Very frequent108
HP:0001263HP:0001263Global developmental delay0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040281 - Very frequent58
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0001263HP:0001263Global developmental delay0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040281 - Very frequent41
HP:0001263HP:0001263Global developmental delay0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0001263HP:0001263Global developmental delay0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001263HP:0001263Global developmental delay0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0001263HP:0001263Global developmental delay0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0001263HP:0001263Global developmental delay0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0001263HP:0001263Global developmental delay0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0001263HP:0001263Global developmental delay0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040281 - Very frequent37
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H2992923157OMIM:603147Congenital disorder of glycosylation, type Ic.66
HP:0001263HP:0001263Global developmental delay0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0001263HP:0001263Global developmental delay0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040281 - Very frequent93
HP:0001263HP:0001263Global developmental delay0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001263HP:0001263Global developmental delay0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0001263HP:0001263Global developmental delay0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0001263HP:0001263Global developmental delay0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001263HP:0001263Global developmental delay0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0001263HP:0001263Global developmental delay0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent132
HP:0001263HP:0001263Global developmental delay0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0001263HP:0001263Global developmental delay0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0001263HP:0001263Global developmental delay0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001263HP:0001263Global developmental delay0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001263HP:0001263Global developmental delay0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37176
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0001263HP:0001263Global developmental delay0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0001263HP:0001263Global developmental delay0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001263HP:0001263Global developmental delay0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001263HP:0001263Global developmental delay0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001263HP:0001263Global developmental delay0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0001263HP:0001263Global developmental delay0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001263HP:0001263Global developmental delay0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0001263HP:0001263Global developmental delay0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0001263HP:0001263Global developmental delay0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040284 - Very rare75
HP:0001263HP:0001263Global developmental delay0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0001263HP:0001263Global developmental delay0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8
HP:0001263HP:0001263Global developmental delay0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0001263HP:0001263Global developmental delay0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive179
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040281 - Very frequent31
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0001263HP:0001263Global developmental delay0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040281 - Very frequent219
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001263HP:0001263Global developmental delay0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0001263HP:0001263Global developmental delay0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001263HP:0001263Global developmental delay0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0001263HP:0001263Global developmental delay0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0001263HP:0001263Global developmental delay0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0001263HP:0001263Global developmental delay0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent166
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0001263HP:0001263Global developmental delay0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040281 - Very frequent166
HP:0001263HP:0001263Global developmental delay0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0001263HP:0001263Global developmental delay0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0001263HP:0001263Global developmental delay0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0001263HP:0001263Global developmental delay0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001263HP:0001263Global developmental delay0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443756ORPHA:314918Mild Canavan disease48
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0001263HP:0001263Global developmental delay0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0001263HP:0001263Global developmental delay0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001263HP:0001263Global developmental delay0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0001263HP:0001263Global developmental delay0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040281 - Very frequent49
HP:0001263HP:0001263Global developmental delay0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001263HP:0001263Global developmental delay0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0001263HP:0001263Global developmental delay0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 25.1
HP:0001263HP:0001263Global developmental delay0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0001263HP:0001263Global developmental delay0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001263HP:0001263Global developmental delay0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0001263HP:0001263Global developmental delay0ATP1A1 CL E G H476799ORPHA:564178Primary hypomagnesemia with refractory seizures and intellectual disabilityHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0001263HP:0001263Global developmental delay0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001263HP:0001263Global developmental delay0ATP2B1 CL E G H490814OMIM:619910
HP:0001263HP:0001263Global developmental delay0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0001263HP:0001263Global developmental delay0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0001263HP:0001263Global developmental delay0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001263HP:0001263Global developmental delay0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001263HP:0001263Global developmental delay0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0001263HP:0001263Global developmental delay0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0001263HP:0001263Global developmental delay0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040281 - Very frequent192
HP:0001263HP:0001263Global developmental delay0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0001263HP:0001263Global developmental delay0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0001263HP:0001263Global developmental delay0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0001263HP:0001263Global developmental delay0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0001263HP:0001263Global developmental delay0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001263HP:0001263Global developmental delay0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001263HP:0001263Global developmental delay0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040282 - Frequent49
HP:0001263HP:0001263Global developmental delay0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0001263HP:0001263Global developmental delay0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0001263HP:0001263Global developmental delay0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0001263HP:0001263Global developmental delay0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040284 - Very rare67
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0001263HP:0001263Global developmental delay0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2HP:0040283 - Occasional38
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0001263HP:0001263Global developmental delay0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0001263HP:0001263Global developmental delay0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001263HP:0001263Global developmental delay0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001263HP:0001263Global developmental delay0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001263HP:0001263Global developmental delay0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001263HP:0001263Global developmental delay0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001263HP:0001263Global developmental delay0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001263HP:0001263Global developmental delay0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0001263HP:0001263Global developmental delay0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0001263HP:0001263Global developmental delay0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0001263HP:0001263Global developmental delay0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001263HP:0001263Global developmental delay0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001263HP:0001263Global developmental delay0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001263HP:0001263Global developmental delay0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0001263HP:0001263Global developmental delay0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001263HP:0001263Global developmental delay0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001263HP:0001263Global developmental delay0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0001263HP:0001263Global developmental delay0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare276
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040282 - Frequent5769
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0001263HP:0001263Global developmental delay0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040282 - Frequent7642
HP:0001263HP:0001263Global developmental delay0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040283 - Occasional8
HP:0001263HP:0001263Global developmental delay0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040282 - Frequent1086
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0001263HP:0001263Global developmental delay0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0001263HP:0001263Global developmental delay0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0001263HP:0001263Global developmental delay0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0001263HP:0001263Global developmental delay0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001263HP:0001263Global developmental delay0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent76
HP:0001263HP:0001263Global developmental delay0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0001263HP:0001263Global developmental delay0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0001263HP:0001263Global developmental delay0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001263HP:0001263Global developmental delay0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0C18ORF32 CL E G H49766131690OMIM:619985
HP:0001263HP:0001263Global developmental delay0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4HP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0001263HP:0001263Global developmental delay0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001263HP:0001263Global developmental delay0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040281 - Very frequent29
HP:0001263HP:0001263Global developmental delay0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiencyHP:0040283 - Occasional10
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001263HP:0001263Global developmental delay0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0001263HP:0001263Global developmental delay0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0CACNA1C CL E G H7751390OMIM:620029572
HP:0001263HP:0001263Global developmental delay0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040281 - Very frequent51
HP:0001263HP:0001263Global developmental delay0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001263HP:0001263Global developmental delay0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001263HP:0001263Global developmental delay0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0001263HP:0001263Global developmental delay0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0001263HP:0001263Global developmental delay0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001263HP:0001263Global developmental delay0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0001263HP:0001263Global developmental delay0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001263HP:0001263Global developmental delay0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0001263HP:0001263Global developmental delay0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0001263HP:0001263Global developmental delay0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent118
HP:0001263HP:0001263Global developmental delay0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0001263HP:0001263Global developmental delay0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001263HP:0001263Global developmental delay0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0001263HP:0001263Global developmental delay0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0001263HP:0001263Global developmental delay0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0001263HP:0001263Global developmental delay0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0001263HP:0001263Global developmental delay0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0001263HP:0001263Global developmental delay0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0001263HP:0001263Global developmental delay0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0001263HP:0001263Global developmental delay0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0001263HP:0001263Global developmental delay0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001263HP:0001263Global developmental delay0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0001263HP:0001263Global developmental delay0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0001263HP:0001263Global developmental delay0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0001263HP:0001263Global developmental delay0CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3.11
HP:0001263HP:0001263Global developmental delay0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0001263HP:0001263Global developmental delay0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare
HP:0001263HP:0001263Global developmental delay0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001263HP:0001263Global developmental delay0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001263HP:0001263Global developmental delay0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0001263HP:0001263Global developmental delay0CDC42BPB CL E G H95781738OMIM:619841
HP:0001263HP:0001263Global developmental delay0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional9
HP:0001263HP:0001263Global developmental delay0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0001263HP:0001263Global developmental delay0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional31
HP:0001263HP:0001263Global developmental delay0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0001263HP:0001263Global developmental delay0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0001263HP:0001263Global developmental delay0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0001263HP:0001263Global developmental delay0CDH2 CL E G H10001759OMIM:619957
HP:0001263HP:0001263Global developmental delay0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001263HP:0001263Global developmental delay0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0001263HP:0001263Global developmental delay0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0001263HP:0001263Global developmental delay0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0001263HP:0001263Global developmental delay0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0001263HP:0001263Global developmental delay0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive.181
HP:0001263HP:0001263Global developmental delay0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent405
HP:0001263HP:0001263Global developmental delay0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomaliesHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0001263HP:0001263Global developmental delay0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0001263HP:0001263Global developmental delay0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional50
HP:0001263HP:0001263Global developmental delay0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0001263HP:0001263Global developmental delay0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0001263HP:0001263Global developmental delay0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H973124866OMIM:6199885
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0001263HP:0001263Global developmental delay0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0001263HP:0001263Global developmental delay0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0001263HP:0001263Global developmental delay0CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 15HP:0040283 - Occasional34
HP:0001263HP:0001263Global developmental delay0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H8018429021OMIM:615991Bardet-Biedl syndrome 14.342
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional342
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0001263HP:0001263Global developmental delay0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent17
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0001263HP:0001263Global developmental delay0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0001263HP:0001263Global developmental delay0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001263HP:0001263Global developmental delay0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0001263HP:0001263Global developmental delay0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 1.6
HP:0001263HP:0001263Global developmental delay0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0001263HP:0001263Global developmental delay0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0001263HP:0001263Global developmental delay0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0001263HP:0001263Global developmental delay0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0001263HP:0001263Global developmental delay0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0001263HP:0001263Global developmental delay0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0001263HP:0001263Global developmental delay0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001263HP:0001263Global developmental delay0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0001263HP:0001263Global developmental delay0CHKA CL E G H11191937OMIM:620023
HP:0001263HP:0001263Global developmental delay0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001263HP:0001263Global developmental delay0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001263HP:0001263Global developmental delay0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040282 - Frequent52
HP:0001263HP:0001263Global developmental delay0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001263HP:0001263Global developmental delay0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0001263HP:0001263Global developmental delay0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0001263HP:0001263Global developmental delay0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0001263HP:0001263Global developmental delay0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0001263HP:0001263Global developmental delay0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0001263HP:0001263Global developmental delay0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001263HP:0001263Global developmental delay0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001263HP:0001263Global developmental delay0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0001263HP:0001263Global developmental delay0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040281 - Very frequent45
HP:0001263HP:0001263Global developmental delay0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0001263HP:0001263Global developmental delay0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001263HP:0001263Global developmental delay0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001263HP:0001263Global developmental delay0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaHP:0040281 - Very frequent38
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0001263HP:0001263Global developmental delay0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001263HP:0001263Global developmental delay0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0001263HP:0001263Global developmental delay0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0001263HP:0001263Global developmental delay0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001263HP:0001263Global developmental delay0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001263HP:0001263Global developmental delay0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0001263HP:0001263Global developmental delay0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001263HP:0001263Global developmental delay0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0001263HP:0001263Global developmental delay0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0001263HP:0001263Global developmental delay0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0001263HP:0001263Global developmental delay0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001263HP:0001263Global developmental delay0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0001263HP:0001263Global developmental delay0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001263HP:0001263Global developmental delay0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0001263HP:0001263Global developmental delay0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0001263HP:0001263Global developmental delay0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001263HP:0001263Global developmental delay0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0001263HP:0001263Global developmental delay0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0001263HP:0001263Global developmental delay0COL27A1 CL E G H8530122986OMIM:615155Steel syndromeHP:0040284 - Very rare1
HP:0001263HP:0001263Global developmental delay0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0001263HP:0001263Global developmental delay0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0001263HP:0001263Global developmental delay0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0001263HP:0001263Global developmental delay0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0001263HP:0001263Global developmental delay0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0001263HP:0001263Global developmental delay0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0001263HP:0001263Global developmental delay0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0001263HP:0001263Global developmental delay0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762232OMIM:619884
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0001263HP:0001263Global developmental delay0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0001263HP:0001263Global developmental delay0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001263HP:0001263Global developmental delay0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0001263HP:0001263Global developmental delay0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0001263HP:0001263Global developmental delay0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001263HP:0001263Global developmental delay0CORO1A CL E G H111512252OMIM:615401Immunodeficiency 8.7
HP:0001263HP:0001263Global developmental delay0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001263HP:0001263Global developmental delay0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0001263HP:0001263Global developmental delay0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0001263HP:0001263Global developmental delay0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001263HP:0001263Global developmental delay0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001263HP:0001263Global developmental delay0CPSF3 CL E G H516922326OMIM:619876
HP:0001263HP:0001263Global developmental delay0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional156
HP:0001263HP:0001263Global developmental delay0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0001263HP:0001263Global developmental delay0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001263HP:0001263Global developmental delay0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001263HP:0001263Global developmental delay0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional158
HP:0001263HP:0001263Global developmental delay0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosisHP:0040284 - Very rare149
HP:0001263HP:0001263Global developmental delay0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0001263HP:0001263Global developmental delay0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001263HP:0001263Global developmental delay0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0001263HP:0001263Global developmental delay0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0001263HP:0001263Global developmental delay0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare88
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0001263HP:0001263Global developmental delay0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0001263HP:0001263Global developmental delay0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001263HP:0001263Global developmental delay0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0001263HP:0001263Global developmental delay0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual development.1
HP:0001263HP:0001263Global developmental delay0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0001263HP:0001263Global developmental delay0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001263HP:0001263Global developmental delay0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0001263HP:0001263Global developmental delay0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0001263HP:0001263Global developmental delay0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040282 - Frequent18
HP:0001263HP:0001263Global developmental delay0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0001263HP:0001263Global developmental delay0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001263HP:0001263Global developmental delay0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001263HP:0001263Global developmental delay0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0001263HP:0001263Global developmental delay0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent27
HP:0001263HP:0001263Global developmental delay0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001263HP:0001263Global developmental delay0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040281 - Very frequent29
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0001263HP:0001263Global developmental delay0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0001263HP:0001263Global developmental delay0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0001263HP:0001263Global developmental delay0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0001263HP:0001263Global developmental delay0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040283 - Occasional57
HP:0001263HP:0001263Global developmental delay0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0001263HP:0001263Global developmental delay0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001263HP:0001263Global developmental delay0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 496
HP:0001263HP:0001263Global developmental delay0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001263HP:0001263Global developmental delay0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001263HP:0001263Global developmental delay0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001263HP:0001263Global developmental delay0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001263HP:0001263Global developmental delay0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0001263HP:0001263Global developmental delay0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0001263HP:0001263Global developmental delay0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001263HP:0001263Global developmental delay0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001263HP:0001263Global developmental delay0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0001263HP:0001263Global developmental delay0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0001263HP:0001263Global developmental delay0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type4
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0001263HP:0001263Global developmental delay0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001263HP:0001263Global developmental delay0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0001263HP:0001263Global developmental delay0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiencyHP:0040281 - Very frequent89
HP:0001263HP:0001263Global developmental delay0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0001263HP:0001263Global developmental delay0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0001263HP:0001263Global developmental delay0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0001263HP:0001263Global developmental delay0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0001263HP:0001263Global developmental delay0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 8.41
HP:0001263HP:0001263Global developmental delay0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040284 - Very rare5
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001263HP:0001263Global developmental delay0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31HP:0040283 - Occasional72
HP:0001263HP:0001263Global developmental delay0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001263HP:0001263Global developmental delay0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0001263HP:0001263Global developmental delay0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0001263HP:0001263Global developmental delay0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040282 - Frequent79
HP:0001263HP:0001263Global developmental delay0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0001263HP:0001263Global developmental delay0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0001263HP:0001263Global developmental delay0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0001263HP:0001263Global developmental delay0DOHH CL E G H8347528662OMIM:620066
HP:0001263HP:0001263Global developmental delay0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001263HP:0001263Global developmental delay0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalitiesHP:0040284 - Very rare9
HP:0001263HP:0001263Global developmental delay0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001263HP:0001263Global developmental delay0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0001263HP:0001263Global developmental delay0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0001263HP:0001263Global developmental delay0DPH2 CL E G H18023004OMIM:620062
HP:0001263HP:0001263Global developmental delay0DPH5 CL E G H5161124270OMIM:620070
HP:0001263HP:0001263Global developmental delay0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0001263HP:0001263Global developmental delay0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0001263HP:0001263Global developmental delay0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0001263HP:0001263Global developmental delay0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0001263HP:0001263Global developmental delay0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040282 - Frequent144
HP:0001263HP:0001263Global developmental delay0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001263HP:0001263Global developmental delay0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001263HP:0001263Global developmental delay0DTYMK CL E G H18413061OMIM:619847
HP:0001263HP:0001263Global developmental delay0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001263HP:0001263Global developmental delay0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0001263HP:0001263Global developmental delay0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001263HP:0001263Global developmental delay0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001263HP:0001263Global developmental delay0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O427
HP:0001263HP:0001263Global developmental delay0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0001263HP:0001263Global developmental delay0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantHP:0040283 - Occasional427
HP:0001263HP:0001263Global developmental delay0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001263HP:0001263Global developmental delay0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040281 - Very frequent134
HP:0001263HP:0001263Global developmental delay0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040281 - Very frequent134
HP:0001263HP:0001263Global developmental delay0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001263HP:0001263Global developmental delay0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0001263HP:0001263Global developmental delay0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001263HP:0001263Global developmental delay0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001263HP:0001263Global developmental delay0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001263HP:0001263Global developmental delay0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001263HP:0001263Global developmental delay0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0001263HP:0001263Global developmental delay0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001263HP:0001263Global developmental delay0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0001263HP:0001263Global developmental delay0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0001263HP:0001263Global developmental delay0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001263HP:0001263Global developmental delay0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0001263HP:0001263Global developmental delay0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001263HP:0001263Global developmental delay0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0001263HP:0001263Global developmental delay0EGF CL E G H19503229OMIM:611718HYPOMAGNESEMIA 4, RENAL; HOMG473
HP:0001263HP:0001263Global developmental delay0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0001263HP:0001263Global developmental delay0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040281 - Very frequent223
HP:0001263HP:0001263Global developmental delay0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0001263HP:0001263Global developmental delay0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0001263HP:0001263Global developmental delay0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001263HP:0001263Global developmental delay0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndrome8
HP:0001263HP:0001263Global developmental delay0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001263HP:0001263Global developmental delay0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0001263HP:0001263Global developmental delay0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0001263HP:0001263Global developmental delay0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001263HP:0001263Global developmental delay0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001263HP:0001263Global developmental delay0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0001263HP:0001263Global developmental delay0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001263HP:0001263Global developmental delay0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0001263HP:0001263Global developmental delay0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001263HP:0001263Global developmental delay0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0001263HP:0001263Global developmental delay0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0001263HP:0001263Global developmental delay0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0001263HP:0001263Global developmental delay0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001263HP:0001263Global developmental delay0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0001263HP:0001263Global developmental delay0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0001263HP:0001263Global developmental delay0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001263HP:0001263Global developmental delay0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0001263HP:0001263Global developmental delay0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001263HP:0001263Global developmental delay0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0001263HP:0001263Global developmental delay0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001263HP:0001263Global developmental delay0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0001263HP:0001263Global developmental delay0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040282 - Frequent158
HP:0001263HP:0001263Global developmental delay0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0001263HP:0001263Global developmental delay0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0001263HP:0001263Global developmental delay0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0001263HP:0001263Global developmental delay0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0001263HP:0001263Global developmental delay0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0001263HP:0001263Global developmental delay0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0001263HP:0001263Global developmental delay0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0001263HP:0001263Global developmental delay0ERMARD CL E G H5578021056OMIM:615544Periventricular nodular heterotopia 6.36
HP:0001263HP:0001263Global developmental delay0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0001263HP:0001263Global developmental delay0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001263HP:0001263Global developmental delay0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0001263HP:0001263Global developmental delay0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0001263HP:0001263Global developmental delay0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0001263HP:0001263Global developmental delay0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001263HP:0001263Global developmental delay0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001263HP:0001263Global developmental delay0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0001263HP:0001263Global developmental delay0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001263HP:0001263Global developmental delay0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001263HP:0001263Global developmental delay0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0001263HP:0001263Global developmental delay0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001263HP:0001263Global developmental delay0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001263HP:0001263Global developmental delay0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent102
HP:0001263HP:0001263Global developmental delay0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0001263HP:0001263Global developmental delay0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040281 - Very frequent102
HP:0001263HP:0001263Global developmental delay0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0001263HP:0001263Global developmental delay0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0001263HP:0001263Global developmental delay0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001263HP:0001263Global developmental delay0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001263HP:0001263Global developmental delay0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0001263HP:0001263Global developmental delay0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0001263HP:0001263Global developmental delay0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0001263HP:0001263Global developmental delay0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040282 - Frequent340
HP:0001263HP:0001263Global developmental delay0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040282 - Frequent58
HP:0001263HP:0001263Global developmental delay0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040282 - Frequent410
HP:0001263HP:0001263Global developmental delay0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040282 - Frequent147
HP:0001263HP:0001263Global developmental delay0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0001263HP:0001263Global developmental delay0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001263HP:0001263Global developmental delay0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040282 - Frequent87
HP:0001263HP:0001263Global developmental delay0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0001263HP:0001263Global developmental delay0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040282 - Frequent157
HP:0001263HP:0001263Global developmental delay0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0001263HP:0001263Global developmental delay0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040282 - Frequent53
HP:0001263HP:0001263Global developmental delay0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L.53
HP:0001263HP:0001263Global developmental delay0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040282 - Frequent107
HP:0001263HP:0001263Global developmental delay0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001263HP:0001263Global developmental delay0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0001263HP:0001263Global developmental delay0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0001263HP:0001263Global developmental delay0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001263HP:0001263Global developmental delay0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001263HP:0001263Global developmental delay0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0001263HP:0001263Global developmental delay0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent114
HP:0001263HP:0001263Global developmental delay0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001263HP:0001263Global developmental delay0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0001263HP:0001263Global developmental delay0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0001263HP:0001263Global developmental delay0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001263HP:0001263Global developmental delay0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001263HP:0001263Global developmental delay0FBXW7 CL E G H5529416712OMIM:62001222
HP:0001263HP:0001263Global developmental delay0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0001263HP:0001263Global developmental delay0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001263HP:0001263Global developmental delay0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001263HP:0001263Global developmental delay0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0001263HP:0001263Global developmental delay0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0001263HP:0001263Global developmental delay0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0001263HP:0001263Global developmental delay0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0001263HP:0001263Global developmental delay0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0001263HP:0001263Global developmental delay0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040282 - Frequent175
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040283 - Occasional145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0001263HP:0001263Global developmental delay0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001263HP:0001263Global developmental delay0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001263HP:0001263Global developmental delay0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0001263HP:0001263Global developmental delay0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040282 - Frequent111
HP:0001263HP:0001263Global developmental delay0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0001263HP:0001263Global developmental delay0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001263HP:0001263Global developmental delay0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0001263HP:0001263Global developmental delay0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0001263HP:0001263Global developmental delay0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040281 - Very frequent8
HP:0001263HP:0001263Global developmental delay0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0001263HP:0001263Global developmental delay0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0001263HP:0001263Global developmental delay0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0001263HP:0001263Global developmental delay0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0001263HP:0001263Global developmental delay0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001263HP:0001263Global developmental delay0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0001263HP:0001263Global developmental delay0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0001263HP:0001263Global developmental delay0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001263HP:0001263Global developmental delay0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001263HP:0001263Global developmental delay0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001263HP:0001263Global developmental delay0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001263HP:0001263Global developmental delay0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0001263HP:0001263Global developmental delay0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001263HP:0001263Global developmental delay0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0001263HP:0001263Global developmental delay0FRA16E CL E G H24643861OMIM:136570Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, includedHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.1
HP:0001263HP:0001263Global developmental delay0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0FRMD5 CL E G H8497828214OMIM:620094
HP:0001263HP:0001263Global developmental delay0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001263HP:0001263Global developmental delay0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001263HP:0001263Global developmental delay0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduria65
HP:0001263HP:0001263Global developmental delay0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0001263HP:0001263Global developmental delay0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0001263HP:0001263Global developmental delay0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0001263HP:0001263Global developmental delay0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0001263HP:0001263Global developmental delay0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0001263HP:0001263Global developmental delay0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001263HP:0001263Global developmental delay0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0001263HP:0001263Global developmental delay0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessiveHP:0040283 - Occasional37
HP:0001263HP:0001263Global developmental delay0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0001263HP:0001263Global developmental delay0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19.134
HP:0001263HP:0001263Global developmental delay0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0001263HP:0001263Global developmental delay0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001263HP:0001263Global developmental delay0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0001263HP:0001263Global developmental delay0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0001263HP:0001263Global developmental delay0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001263HP:0001263Global developmental delay0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0001263HP:0001263Global developmental delay0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001263HP:0001263Global developmental delay0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74139
HP:0001263HP:0001263Global developmental delay0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001263HP:0001263Global developmental delay0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001263HP:0001263Global developmental delay0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0001263HP:0001263Global developmental delay0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001263HP:0001263Global developmental delay0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001263HP:0001263Global developmental delay0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0001263HP:0001263Global developmental delay0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001263HP:0001263Global developmental delay0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0001263HP:0001263Global developmental delay0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040281 - Very frequent87
HP:0001263HP:0001263Global developmental delay0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects37
HP:0001263HP:0001263Global developmental delay0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0001263HP:0001263Global developmental delay0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0001263HP:0001263Global developmental delay0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0001263HP:0001263Global developmental delay0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001263HP:0001263Global developmental delay0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0001263HP:0001263Global developmental delay0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0001263HP:0001263Global developmental delay0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0001263HP:0001263Global developmental delay0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional64
HP:0001263HP:0001263Global developmental delay0GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0001263HP:0001263Global developmental delay0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0001263HP:0001263Global developmental delay0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001263HP:0001263Global developmental delay0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001263HP:0001263Global developmental delay0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0001263HP:0001263Global developmental delay0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0001263HP:0001263Global developmental delay0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0001263HP:0001263Global developmental delay0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0001263HP:0001263Global developmental delay0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0001263HP:0001263Global developmental delay0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001263HP:0001263Global developmental delay0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001263HP:0001263Global developmental delay0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001263HP:0001263Global developmental delay0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0001263HP:0001263Global developmental delay0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0001263HP:0001263Global developmental delay0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0001263HP:0001263Global developmental delay0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0001263HP:0001263Global developmental delay0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0001263HP:0001263Global developmental delay0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndromeHP:0040283 - Occasional173
HP:0001263HP:0001263Global developmental delay0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0001263HP:0001263Global developmental delay0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001263HP:0001263Global developmental delay0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0001263HP:0001263Global developmental delay0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001263HP:0001263Global developmental delay0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0001263HP:0001263Global developmental delay0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine.
HP:0001263HP:0001263Global developmental delay0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0001263HP:0001263Global developmental delay0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0001263HP:0001263Global developmental delay0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001263HP:0001263Global developmental delay0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001263HP:0001263Global developmental delay0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduria6
HP:0001263HP:0001263Global developmental delay0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0001263HP:0001263Global developmental delay0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional3
HP:0001263HP:0001263Global developmental delay0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040282 - Frequent34
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0001263HP:0001263Global developmental delay0GNAI1 CL E G H27704384OMIM:619854
HP:0001263HP:0001263Global developmental delay0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent36
HP:0001263HP:0001263Global developmental delay0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17.36
HP:0001263HP:0001263Global developmental delay0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0001263HP:0001263Global developmental delay0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0001263HP:0001263Global developmental delay0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0001263HP:0001263Global developmental delay0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001263HP:0001263Global developmental delay0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0001263HP:0001263Global developmental delay0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmiaHP:0040283 - Occasional7
HP:0001263HP:0001263Global developmental delay0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040283 - Occasional173
HP:0001263HP:0001263Global developmental delay0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0001263HP:0001263Global developmental delay0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001263HP:0001263Global developmental delay0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001263HP:0001263Global developmental delay0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0001263HP:0001263Global developmental delay0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001263HP:0001263Global developmental delay0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare23
HP:0001263HP:0001263Global developmental delay0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0001263HP:0001263Global developmental delay0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare8
HP:0001263HP:0001263Global developmental delay0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001263HP:0001263Global developmental delay0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001263HP:0001263Global developmental delay0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0001263HP:0001263Global developmental delay0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0001263HP:0001263Global developmental delay0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001263HP:0001263Global developmental delay0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0GRIA1 CL E G H28904571OMIM:6199273
HP:0001263HP:0001263Global developmental delay0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001263HP:0001263Global developmental delay0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040281 - Very frequent30
HP:0001263HP:0001263Global developmental delay0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0001263HP:0001263Global developmental delay0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001263HP:0001263Global developmental delay0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6.32
HP:0001263HP:0001263Global developmental delay0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001263HP:0001263Global developmental delay0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0001263HP:0001263Global developmental delay0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001263HP:0001263Global developmental delay0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent108
HP:0001263HP:0001263Global developmental delay0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0001263HP:0001263Global developmental delay0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0001263HP:0001263Global developmental delay0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0001263HP:0001263Global developmental delay0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0001263HP:0001263Global developmental delay0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0001263HP:0001263Global developmental delay0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0001263HP:0001263Global developmental delay0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001263HP:0001263Global developmental delay0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001263HP:0001263Global developmental delay0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0001263HP:0001263Global developmental delay0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001263HP:0001263Global developmental delay0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0001263HP:0001263Global developmental delay0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001263HP:0001263Global developmental delay0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001263HP:0001263Global developmental delay0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23HP:0040282 - Frequent30
HP:0001263HP:0001263Global developmental delay0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional124
HP:0001263HP:0001263Global developmental delay0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0001263HP:0001263Global developmental delay0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiencyHP:0040283 - Occasional100
HP:0001263HP:0001263Global developmental delay0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0001263HP:0001263Global developmental delay0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0001263HP:0001263Global developmental delay0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001263HP:0001263Global developmental delay0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001263HP:0001263Global developmental delay0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001263HP:0001263Global developmental delay0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001263HP:0001263Global developmental delay0H4C5 CL E G H83674790OMIM:619950
HP:0001263HP:0001263Global developmental delay0H4C9 CL E G H82944793OMIM:619951
HP:0001263HP:0001263Global developmental delay0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1HP:0040284 - Very rare2
HP:0001263HP:0001263Global developmental delay0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001263HP:0001263Global developmental delay0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040281 - Very frequent10
HP:0001263HP:0001263Global developmental delay0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent99
HP:0001263HP:0001263Global developmental delay0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0001263HP:0001263Global developmental delay0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0001263HP:0001263Global developmental delay0HAL CL E G H30344806ORPHA:2157Histidinemia73
HP:0001263HP:0001263Global developmental delay0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0001263HP:0001263Global developmental delay0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0001263HP:0001263Global developmental delay0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0001263HP:0001263Global developmental delay0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 10HP:0040284 - Very rare54
HP:0001263HP:0001263Global developmental delay0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001263HP:0001263Global developmental delay0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0001263HP:0001263Global developmental delay0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0001263HP:0001263Global developmental delay0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0001263HP:0001263Global developmental delay0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0001263HP:0001263Global developmental delay0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0001263HP:0001263Global developmental delay0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4HP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001263HP:0001263Global developmental delay0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0001263HP:0001263Global developmental delay0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0001263HP:0001263Global developmental delay0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0001263HP:0001263Global developmental delay0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0001263HP:0001263Global developmental delay0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0001263HP:0001263Global developmental delay0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0001263HP:0001263Global developmental delay0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001263HP:0001263Global developmental delay0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0001263HP:0001263Global developmental delay0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001263HP:0001263Global developmental delay0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001263HP:0001263Global developmental delay0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0001263HP:0001263Global developmental delay0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiencyHP:0040284 - Very rare35
HP:0001263HP:0001263Global developmental delay0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0001263HP:0001263Global developmental delay0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0001263HP:0001263Global developmental delay0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 513
HP:0001263HP:0001263Global developmental delay0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001263HP:0001263Global developmental delay0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001263HP:0001263Global developmental delay0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0001263HP:0001263Global developmental delay0HNRNPR CL E G H102365047OMIM:620073
HP:0001263HP:0001263Global developmental delay0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0001263HP:0001263Global developmental delay0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0001263HP:0001263Global developmental delay0HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040283 - Occasional76
HP:0001263HP:0001263Global developmental delay0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0001263HP:0001263Global developmental delay0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6HP:0040284 - Very rare45
HP:0001263HP:0001263Global developmental delay0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001263HP:0001263Global developmental delay0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001263HP:0001263Global developmental delay0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0001263HP:0001263Global developmental delay0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0001263HP:0001263Global developmental delay0HSD17B10 CL E G H30284800ORPHA:391457HSD10 disease, neonatal type19
HP:0001263HP:0001263Global developmental delay0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001263HP:0001263Global developmental delay0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001263HP:0001263Global developmental delay0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0001263HP:0001263Global developmental delay0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0001263HP:0001263Global developmental delay0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0001263HP:0001263Global developmental delay0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001263HP:0001263Global developmental delay0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001263HP:0001263Global developmental delay0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001263HP:0001263Global developmental delay0HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001263HP:0001263Global developmental delay0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0001263HP:0001263Global developmental delay0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0001263HP:0001263Global developmental delay0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0001263HP:0001263Global developmental delay0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001263HP:0001263Global developmental delay0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001263HP:0001263Global developmental delay0IDH2 CL E G H34185383OMIM:613657D-2-hydroxyglutaric aciduria 2.29
HP:0001263HP:0001263Global developmental delay0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040284 - Very rare86
HP:0001263HP:0001263Global developmental delay0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0001263HP:0001263Global developmental delay0IDUA CL E G H34255391OMIM:607014Hurler syndrome.HP:0011463 - Childhood onset115
HP:0001263HP:0001263Global developmental delay0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0001263HP:0001263Global developmental delay0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0001263HP:0001263Global developmental delay0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0001263HP:0001263Global developmental delay0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0001263HP:0001263Global developmental delay0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional148
HP:0001263HP:0001263Global developmental delay0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80HP:0040284 - Very rare148
HP:0001263HP:0001263Global developmental delay0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001263HP:0001263Global developmental delay0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001263HP:0001263Global developmental delay0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0001263HP:0001263Global developmental delay0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001263HP:0001263Global developmental delay0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0001263HP:0001263Global developmental delay0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0001263HP:0001263Global developmental delay0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0001263HP:0001263Global developmental delay0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional52
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0001263HP:0001263Global developmental delay0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0001263HP:0001263Global developmental delay0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0001263HP:0001263Global developmental delay0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0001263HP:0001263Global developmental delay0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001263HP:0001263Global developmental delay0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0001263HP:0001263Global developmental delay0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001263HP:0001263Global developmental delay0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0001263HP:0001263Global developmental delay0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0001263HP:0001263Global developmental delay0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001263HP:0001263Global developmental delay0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional61
HP:0001263HP:0001263Global developmental delay0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0001263HP:0001263Global developmental delay0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001263HP:0001263Global developmental delay0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0001263HP:0001263Global developmental delay0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0001263HP:0001263Global developmental delay0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0001263HP:0001263Global developmental delay0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001263HP:0001263Global developmental delay0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0001263HP:0001263Global developmental delay0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0001263HP:0001263Global developmental delay0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001263HP:0001263Global developmental delay0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare119
HP:0001263HP:0001263Global developmental delay0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare69
HP:0001263HP:0001263Global developmental delay0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare80
HP:0001263HP:0001263Global developmental delay0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0001263HP:0001263Global developmental delay0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent177
HP:0001263HP:0001263Global developmental delay0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001263HP:0001263Global developmental delay0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040283 - Occasional177
HP:0001263HP:0001263Global developmental delay0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001263HP:0001263Global developmental delay0IVD CL E G H37126186ORPHA:33Isovaleric acidemiaHP:0040281 - Very frequent105
HP:0001263HP:0001263Global developmental delay0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0001263HP:0001263Global developmental delay0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts.4
HP:0001263HP:0001263Global developmental delay0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040281 - Very frequent283
HP:0001263HP:0001263Global developmental delay0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0001263HP:0001263Global developmental delay0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040281 - Very frequent283
HP:0001263HP:0001263Global developmental delay0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0001263HP:0001263Global developmental delay0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001263HP:0001263Global developmental delay0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0001263HP:0001263Global developmental delay0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001263HP:0001263Global developmental delay0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001263HP:0001263Global developmental delay0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001263HP:0001263Global developmental delay0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0001263HP:0001263Global developmental delay0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0001263HP:0001263Global developmental delay0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0001263HP:0001263Global developmental delay0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent145
HP:0001263HP:0001263Global developmental delay0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 3213
HP:0001263HP:0001263Global developmental delay0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001263HP:0001263Global developmental delay0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0001263HP:0001263Global developmental delay0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001263HP:0001263Global developmental delay0KCNC2 CL E G H37476234OMIM:619913
HP:0001263HP:0001263Global developmental delay0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001263HP:0001263Global developmental delay0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0001263HP:0001263Global developmental delay0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0001263HP:0001263Global developmental delay0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001263HP:0001263Global developmental delay0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0001263HP:0001263Global developmental delay0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0001263HP:0001263Global developmental delay0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional42
HP:0001263HP:0001263Global developmental delay0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0001263HP:0001263Global developmental delay0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001263HP:0001263Global developmental delay0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0001263HP:0001263Global developmental delay0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0001263HP:0001263Global developmental delay0KCNMA1 CL E G H37786284OMIM:618596EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16114
HP:0001263HP:0001263Global developmental delay0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsyHP:0040284 - Very rare114
HP:0001263HP:0001263Global developmental delay0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001263HP:0001263Global developmental delay0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0001263HP:0001263Global developmental delay0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0001263HP:0001263Global developmental delay0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040281 - Very frequent528
HP:0001263HP:0001263Global developmental delay0KCNQ2 CL E G H37856296OMIM:121200Seizures, benign familial neonatal, 1HP:0040283 - Occasional528
HP:0001263HP:0001263Global developmental delay0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 46.5
HP:0001263HP:0001263Global developmental delay0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0001263HP:0001263Global developmental delay0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0001263HP:0001263Global developmental delay0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001263HP:0001263Global developmental delay0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0001263HP:0001263Global developmental delay0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001263HP:0001263Global developmental delay0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001263HP:0001263Global developmental delay0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001263HP:0001263Global developmental delay0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0001263HP:0001263Global developmental delay0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0001263HP:0001263Global developmental delay0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 23.24
HP:0001263HP:0001263Global developmental delay0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0001263HP:0001263Global developmental delay0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0001263HP:0001263Global developmental delay0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001263HP:0001263Global developmental delay0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0001263HP:0001263Global developmental delay0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent9
HP:0001263HP:0001263Global developmental delay0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0001263HP:0001263Global developmental delay0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0001263HP:0001263Global developmental delay0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IICHP:0040283 - Occasional276
HP:0001263HP:0001263Global developmental delay0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0001263HP:0001263Global developmental delay0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0001263HP:0001263Global developmental delay0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 3.15
HP:0001263HP:0001263Global developmental delay0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001263HP:0001263Global developmental delay0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0001263HP:0001263Global developmental delay0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001263HP:0001263Global developmental delay0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0001263HP:0001263Global developmental delay0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0001263HP:0001263Global developmental delay0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0001263HP:0001263Global developmental delay0KMT2B CL E G H975715840OMIM:61993411
HP:0001263HP:0001263Global developmental delay0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0001263HP:0001263Global developmental delay0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0001263HP:0001263Global developmental delay0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040281 - Very frequent99
HP:0001263HP:0001263Global developmental delay0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001263HP:0001263Global developmental delay0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0001263HP:0001263Global developmental delay0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0001263HP:0001263Global developmental delay0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent112
HP:0001263HP:0001263Global developmental delay0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0001263HP:0001263Global developmental delay0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0001263HP:0001263Global developmental delay0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001263HP:0001263Global developmental delay0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001263HP:0001263Global developmental delay0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0001263HP:0001263Global developmental delay0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0001263HP:0001263Global developmental delay0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001263HP:0001263Global developmental delay0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0001263HP:0001263Global developmental delay0LAMB1 CL E G H39126486ORPHA:352682Cobblestone lissencephaly without muscular or ocular involvement71
HP:0001263HP:0001263Global developmental delay0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0001263HP:0001263Global developmental delay0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0001263HP:0001263Global developmental delay0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0001263HP:0001263Global developmental delay0LAMC3 CL E G H103196494OMIM:614115Cortical malformations, occipitalHP:0040283 - Occasional114
HP:0001263HP:0001263Global developmental delay0LAMP2 CL E G H39206501OMIM:300257Danon disease.211
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0001263HP:0001263Global developmental delay0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0001263HP:0001263Global developmental delay0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0001263HP:0001263Global developmental delay0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0001263HP:0001263Global developmental delay0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0001263HP:0001263Global developmental delay0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly.70
HP:0001263HP:0001263Global developmental delay0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional70
HP:0001263HP:0001263Global developmental delay0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0001263HP:0001263Global developmental delay0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0001263HP:0001263Global developmental delay0LETM1 CL E G H39546556OMIM:6200892
HP:0001263HP:0001263Global developmental delay0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001263HP:0001263Global developmental delay0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0LGI3 CL E G H20319018711OMIM:620007
HP:0001263HP:0001263Global developmental delay0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0001263HP:0001263Global developmental delay0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0001263HP:0001263Global developmental delay0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures31
HP:0001263HP:0001263Global developmental delay0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0001263HP:0001263Global developmental delay0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040281 - Very frequent88
HP:0001263HP:0001263Global developmental delay0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0001263HP:0001263Global developmental delay0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0001263HP:0001263Global developmental delay0LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040281 - Very frequent73
HP:0001263HP:0001263Global developmental delay0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001263HP:0001263Global developmental delay0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0001263HP:0001263Global developmental delay0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0001263HP:0001263Global developmental delay0LMAN2L CL E G H8156219263OMIM:6178631
HP:0001263HP:0001263Global developmental delay0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 52.1
HP:0001263HP:0001263Global developmental delay0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001263HP:0001263Global developmental delay0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0001263HP:0001263Global developmental delay0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040282 - Frequent645
HP:0001263HP:0001263Global developmental delay0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001263HP:0001263Global developmental delay0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0001263HP:0001263Global developmental delay0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0001263HP:0001263Global developmental delay0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0001263HP:0001263Global developmental delay0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0001263HP:0001263Global developmental delay0LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0001263HP:0001263Global developmental delay0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional62
HP:0001263HP:0001263Global developmental delay0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0001263HP:0001263Global developmental delay0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0001263HP:0001263Global developmental delay0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0001263HP:0001263Global developmental delay0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0001263HP:0001263Global developmental delay0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040283 - Occasional125
HP:0001263HP:0001263Global developmental delay0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndrome125
HP:0001263HP:0001263Global developmental delay0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0001263HP:0001263Global developmental delay0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001263HP:0001263Global developmental delay0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001263HP:0001263Global developmental delay0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia.1
HP:0001263HP:0001263Global developmental delay0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0001263HP:0001263Global developmental delay0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0001263HP:0001263Global developmental delay0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001263HP:0001263Global developmental delay0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001263HP:0001263Global developmental delay0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001263HP:0001263Global developmental delay0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001263HP:0001263Global developmental delay0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0001263HP:0001263Global developmental delay0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0001263HP:0001263Global developmental delay0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001263HP:0001263Global developmental delay0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001263HP:0001263Global developmental delay0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040281 - Very frequent21
HP:0001263HP:0001263Global developmental delay0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001263HP:0001263Global developmental delay0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent63
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001263HP:0001263Global developmental delay0MAGT1 CL E G H8406128880OMIM:301031CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC17
HP:0001263HP:0001263Global developmental delay0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040281 - Very frequent93
HP:0001263HP:0001263Global developmental delay0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0001263HP:0001263Global developmental delay0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001263HP:0001263Global developmental delay0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001263HP:0001263Global developmental delay0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0001263HP:0001263Global developmental delay0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0001263HP:0001263Global developmental delay0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0001263HP:0001263Global developmental delay0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0001263HP:0001263Global developmental delay0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001263HP:0001263Global developmental delay0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0001263HP:0001263Global developmental delay0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0001263HP:0001263Global developmental delay0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0001263HP:0001263Global developmental delay0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001263HP:0001263Global developmental delay0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0001263HP:0001263Global developmental delay0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0001263HP:0001263Global developmental delay0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0001263HP:0001263Global developmental delay0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0001263HP:0001263Global developmental delay0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0001263HP:0001263Global developmental delay0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0001263HP:0001263Global developmental delay0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001263HP:0001263Global developmental delay0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001263HP:0001263Global developmental delay0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0001263HP:0001263Global developmental delay0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0001263HP:0001263Global developmental delay0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent155
HP:0001263HP:0001263Global developmental delay0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001263HP:0001263Global developmental delay0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0001263HP:0001263Global developmental delay0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0001263HP:0001263Global developmental delay0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0001263HP:0001263Global developmental delay0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0001263HP:0001263Global developmental delay0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001263HP:0001263Global developmental delay0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0001263HP:0001263Global developmental delay0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040281 - Very frequent74
HP:0001263HP:0001263Global developmental delay0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001263HP:0001263Global developmental delay0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0001263HP:0001263Global developmental delay0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0001263HP:0001263Global developmental delay0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0001263HP:0001263Global developmental delay0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001263HP:0001263Global developmental delay0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0001263HP:0001263Global developmental delay0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0001263HP:0001263Global developmental delay0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001263HP:0001263Global developmental delay0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44.13
HP:0001263HP:0001263Global developmental delay0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0001263HP:0001263Global developmental delay0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0001263HP:0001263Global developmental delay0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001263HP:0001263Global developmental delay0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0001263HP:0001263Global developmental delay0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040281 - Very frequent39
HP:0001263HP:0001263Global developmental delay0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0001263HP:0001263Global developmental delay0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001263HP:0001263Global developmental delay0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001263HP:0001263Global developmental delay0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0001263HP:0001263Global developmental delay0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0001263HP:0001263Global developmental delay0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0001263HP:0001263Global developmental delay0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0001263HP:0001263Global developmental delay0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001263HP:0001263Global developmental delay0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001263HP:0001263Global developmental delay0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0001263HP:0001263Global developmental delay0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0001263HP:0001263Global developmental delay0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001263HP:0001263Global developmental delay0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0001263HP:0001263Global developmental delay0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0001263HP:0001263Global developmental delay0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0001263HP:0001263Global developmental delay0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001263HP:0001263Global developmental delay0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001263HP:0001263Global developmental delay0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001263HP:0001263Global developmental delay0MMADHC CL E G H2724925221ORPHA:79283Methylmalonic acidemia with homocystinuria, type cblDHP:0040281 - Very frequent50
HP:0001263HP:0001263Global developmental delay0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0001263HP:0001263Global developmental delay0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001263HP:0001263Global developmental delay0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001263HP:0001263Global developmental delay0MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0001263HP:0001263Global developmental delay0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0001263HP:0001263Global developmental delay0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0001263HP:0001263Global developmental delay0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0001263HP:0001263Global developmental delay0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2ZHP:0040283 - Occasional8
HP:0001263HP:0001263Global developmental delay0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0001263HP:0001263Global developmental delay0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0001263HP:0001263Global developmental delay0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001263HP:0001263Global developmental delay0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0001263HP:0001263Global developmental delay0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001263HP:0001263Global developmental delay0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0001263HP:0001263Global developmental delay0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001263HP:0001263Global developmental delay0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0001263HP:0001263Global developmental delay0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0001263HP:0001263Global developmental delay0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0001263HP:0001263Global developmental delay0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0001263HP:0001263Global developmental delay0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0001263HP:0001263Global developmental delay0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001263HP:0001263Global developmental delay0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0001263HP:0001263Global developmental delay0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001263HP:0001263Global developmental delay0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0001263HP:0001263Global developmental delay0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15.29
HP:0001263HP:0001263Global developmental delay0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001263HP:0001263Global developmental delay0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 27.29
HP:0001263HP:0001263Global developmental delay0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity.183
HP:0001263HP:0001263Global developmental delay0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0001263HP:0001263Global developmental delay0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0001263HP:0001263Global developmental delay0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0001263HP:0001263Global developmental delay0MTOR CL E G H24753942ORPHA:99802Hemimegalencephaly68
HP:0001263HP:0001263Global developmental delay0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040282 - Frequent68
HP:0001263HP:0001263Global developmental delay0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0001263HP:0001263Global developmental delay0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0001263HP:0001263Global developmental delay0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessiveHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0001263HP:0001263Global developmental delay0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040281 - Very frequent88
HP:0001263HP:0001263Global developmental delay0MTSS2 CL E G H9215425094OMIM:620086
HP:0001263HP:0001263Global developmental delay0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040283 - Occasional150
HP:0001263HP:0001263Global developmental delay0MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001263HP:0001263Global developmental delay0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0001263HP:0001263Global developmental delay0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001263HP:0001263Global developmental delay0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040282 - Frequent35
HP:0001263HP:0001263Global developmental delay0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0001263HP:0001263Global developmental delay0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040281 - Very frequent35
HP:0001263HP:0001263Global developmental delay0MYO5B CL E G H46457603ORPHA:2290Microvillus inclusion diseaseHP:0040282 - Frequent192
HP:0001263HP:0001263Global developmental delay0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0001263HP:0001263Global developmental delay0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4HP:0040284 - Very rare
HP:0001263HP:0001263Global developmental delay0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0001263HP:0001263Global developmental delay0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0001263HP:0001263Global developmental delay0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0001263HP:0001263Global developmental delay0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0001263HP:0001263Global developmental delay0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001263HP:0001263Global developmental delay0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0001263HP:0001263Global developmental delay0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0001263HP:0001263Global developmental delay0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0001263HP:0001263Global developmental delay0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040281 - Very frequent47
HP:0001263HP:0001263Global developmental delay0NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3HP:0040281 - Very frequent47
HP:0001263HP:0001263Global developmental delay0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001263HP:0001263Global developmental delay0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0001263HP:0001263Global developmental delay0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0001263HP:0001263Global developmental delay0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0001263HP:0001263Global developmental delay0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0001263HP:0001263Global developmental delay0NAPB CL E G H6390815751OMIM:6200332
HP:0001263HP:0001263Global developmental delay0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001263HP:0001263Global developmental delay0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001263HP:0001263Global developmental delay0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001263HP:0001263Global developmental delay0NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0001263HP:0001263Global developmental delay0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0001263HP:0001263Global developmental delay0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001263HP:0001263Global developmental delay0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0001263HP:0001263Global developmental delay0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0001263HP:0001263Global developmental delay0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0001263HP:0001263Global developmental delay0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040281 - Very frequent96
HP:0001263HP:0001263Global developmental delay0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 4.96
HP:0001263HP:0001263Global developmental delay0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0001263HP:0001263Global developmental delay0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001263HP:0001263Global developmental delay0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0001263HP:0001263Global developmental delay0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0001263HP:0001263Global developmental delay0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0001263HP:0001263Global developmental delay0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0001263HP:0001263Global developmental delay0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0001263HP:0001263Global developmental delay0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0001263HP:0001263Global developmental delay0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0001263HP:0001263Global developmental delay0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0001263HP:0001263Global developmental delay0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0001263HP:0001263Global developmental delay0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0001263HP:0001263Global developmental delay0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0001263HP:0001263Global developmental delay0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001263HP:0001263Global developmental delay0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0001263HP:0001263Global developmental delay0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0001263HP:0001263Global developmental delay0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0001263HP:0001263Global developmental delay0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0001263HP:0001263Global developmental delay0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0001263HP:0001263Global developmental delay0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0001263HP:0001263Global developmental delay0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0001263HP:0001263Global developmental delay0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0001263HP:0001263Global developmental delay0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0001263HP:0001263Global developmental delay0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0001263HP:0001263Global developmental delay0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0001263HP:0001263Global developmental delay0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0001263HP:0001263Global developmental delay0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0001263HP:0001263Global developmental delay0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0001263HP:0001263Global developmental delay0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0001263HP:0001263Global developmental delay0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0001263HP:0001263Global developmental delay0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0001263HP:0001263Global developmental delay0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001263HP:0001263Global developmental delay0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0001263HP:0001263Global developmental delay0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0001263HP:0001263Global developmental delay0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0001263HP:0001263Global developmental delay0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0001263HP:0001263Global developmental delay0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0001263HP:0001263Global developmental delay0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0001263HP:0001263Global developmental delay0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0001263HP:0001263Global developmental delay0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0001263HP:0001263Global developmental delay0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001263HP:0001263Global developmental delay0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0001263HP:0001263Global developmental delay0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0001263HP:0001263Global developmental delay0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0001263HP:0001263Global developmental delay0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0001263HP:0001263Global developmental delay0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0001263HP:0001263Global developmental delay0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0001263HP:0001263Global developmental delay0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2HP:0040284 - Very rare42
HP:0001263HP:0001263Global developmental delay0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0001263HP:0001263Global developmental delay0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0001263HP:0001263Global developmental delay0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0001263HP:0001263Global developmental delay0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001263HP:0001263Global developmental delay0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 21.1
HP:0001263HP:0001263Global developmental delay0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0001263HP:0001263Global developmental delay0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0001263HP:0001263Global developmental delay0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0001263HP:0001263Global developmental delay0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0001263HP:0001263Global developmental delay0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001263HP:0001263Global developmental delay0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0001263HP:0001263Global developmental delay0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040281 - Very frequent43
HP:0001263HP:0001263Global developmental delay0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0001263HP:0001263Global developmental delay0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001263HP:0001263Global developmental delay0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0001263HP:0001263Global developmental delay0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel type52
HP:0001263HP:0001263Global developmental delay0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001263HP:0001263Global developmental delay0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:0001263HP:0001263Global developmental delay0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0001263HP:0001263Global developmental delay0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0001263HP:0001263Global developmental delay0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0001263HP:0001263Global developmental delay0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001263HP:0001263Global developmental delay0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0001263HP:0001263Global developmental delay0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0001263HP:0001263Global developmental delay0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0001263HP:0001263Global developmental delay0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0001263HP:0001263Global developmental delay0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0001263HP:0001263Global developmental delay0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0001263HP:0001263Global developmental delay0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0001263HP:0001263Global developmental delay0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0001263HP:0001263Global developmental delay0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001263HP:0001263Global developmental delay0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0001263HP:0001263Global developmental delay0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0001263HP:0001263Global developmental delay0NIN CL E G H5119914906OMIM:614851Seckel syndrome 755
HP:0001263HP:0001263Global developmental delay0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0001263HP:0001263Global developmental delay0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001263HP:0001263Global developmental delay0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040282 - Frequent51
HP:0001263HP:0001263Global developmental delay0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001263HP:0001263Global developmental delay0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0001263HP:0001263Global developmental delay0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040282 - Frequent90
HP:0001263HP:0001263Global developmental delay0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent90
HP:0001263HP:0001263Global developmental delay0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0001263HP:0001263Global developmental delay0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0001263HP:0001263Global developmental delay0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0001263HP:0001263Global developmental delay0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional15
HP:0001263HP:0001263Global developmental delay0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0001263HP:0001263Global developmental delay0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001263HP:0001263Global developmental delay0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0001263HP:0001263Global developmental delay0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0001263HP:0001263Global developmental delay0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001263HP:0001263Global developmental delay0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0001263HP:0001263Global developmental delay0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0001263HP:0001263Global developmental delay0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0001263HP:0001263Global developmental delay0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0001263HP:0001263Global developmental delay0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0001263HP:0001263Global developmental delay0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0001263HP:0001263Global developmental delay0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0001263HP:0001263Global developmental delay0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0001263HP:0001263Global developmental delay0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome.37
HP:0001263HP:0001263Global developmental delay0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040282 - Frequent37
HP:0001263HP:0001263Global developmental delay0NR4A2 CL E G H49297981OMIM:61991127
HP:0001263HP:0001263Global developmental delay0NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somaticHP:0040283 - Occasional102
HP:0001263HP:0001263Global developmental delay0NRCAM CL E G H48977994OMIM:6198332
HP:0001263HP:0001263Global developmental delay0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0001263HP:0001263Global developmental delay0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0001263HP:0001263Global developmental delay0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001263HP:0001263Global developmental delay0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0001263HP:0001263Global developmental delay0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0001263HP:0001263Global developmental delay0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0001263HP:0001263Global developmental delay0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001263HP:0001263Global developmental delay0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0001263HP:0001263Global developmental delay0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0001263HP:0001263Global developmental delay0NSRP1 CL E G H8408125305OMIM:620001
HP:0001263HP:0001263Global developmental delay0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0001263HP:0001263Global developmental delay0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001263HP:0001263Global developmental delay0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040282 - Frequent15
HP:0001263HP:0001263Global developmental delay0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0001263HP:0001263Global developmental delay0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001263HP:0001263Global developmental delay0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0001263HP:0001263Global developmental delay0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001263HP:0001263Global developmental delay0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0001263HP:0001263Global developmental delay0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay8
HP:0001263HP:0001263Global developmental delay0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0001263HP:0001263Global developmental delay0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0001263HP:0001263Global developmental delay0NUDT2 CL E G H3188049OMIM:619844
HP:0001263HP:0001263Global developmental delay0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0001263HP:0001263Global developmental delay0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0001263HP:0001263Global developmental delay0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0001263HP:0001263Global developmental delay0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0001263HP:0001263Global developmental delay0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0001263HP:0001263Global developmental delay0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0001263HP:0001263Global developmental delay0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0001263HP:0001263Global developmental delay0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0001263HP:0001263Global developmental delay0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040281 - Very frequent121
HP:0001263HP:0001263Global developmental delay0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0001263HP:0001263Global developmental delay0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0001263HP:0001263Global developmental delay0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001263HP:0001263Global developmental delay0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001263HP:0001263Global developmental delay0OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0001263HP:0001263Global developmental delay0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001263HP:0001263Global developmental delay0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10.201
HP:0001263HP:0001263Global developmental delay0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0001263HP:0001263Global developmental delay0OGDH CL E G H49678124ORPHA:31Oxoglutaric aciduriaHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0001263HP:0001263Global developmental delay0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0001263HP:0001263Global developmental delay0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0001263HP:0001263Global developmental delay0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0001263HP:0001263Global developmental delay0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0001263HP:0001263Global developmental delay0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040281 - Very frequent55
HP:0001263HP:0001263Global developmental delay0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional53
HP:0001263HP:0001263Global developmental delay0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional21
HP:0001263HP:0001263Global developmental delay0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional39
HP:0001263HP:0001263Global developmental delay0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001263HP:0001263Global developmental delay0OSTM1 CL E G H2896221652ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasiaHP:0040282 - Frequent73
HP:0001263HP:0001263Global developmental delay0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0001263HP:0001263Global developmental delay0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001263HP:0001263Global developmental delay0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001263HP:0001263Global developmental delay0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0001263HP:0001263Global developmental delay0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0001263HP:0001263Global developmental delay0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0001263HP:0001263Global developmental delay0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0001263HP:0001263Global developmental delay0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0001263HP:0001263Global developmental delay0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040283 - Occasional2
HP:0001263HP:0001263Global developmental delay0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001263HP:0001263Global developmental delay0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040281 - Very frequent24
HP:0001263HP:0001263Global developmental delay0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0001263HP:0001263Global developmental delay0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0001263HP:0001263Global developmental delay0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040281 - Very frequent231
HP:0001263HP:0001263Global developmental delay0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0001263HP:0001263Global developmental delay0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040281 - Very frequent641
HP:0001263HP:0001263Global developmental delay0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040282 - Frequent641
HP:0001263HP:0001263Global developmental delay0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0001263HP:0001263Global developmental delay0PAK2 CL E G H50628591OMIM:618458
HP:0001263HP:0001263Global developmental delay0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001263HP:0001263Global developmental delay0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040282 - Frequent1349
HP:0001263HP:0001263Global developmental delay0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0001263HP:0001263Global developmental delay0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0001263HP:0001263Global developmental delay0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001263HP:0001263Global developmental delay0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0001263HP:0001263Global developmental delay0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0001263HP:0001263Global developmental delay0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0001263HP:0001263Global developmental delay0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0001263HP:0001263Global developmental delay0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0001263HP:0001263Global developmental delay0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0001263HP:0001263Global developmental delay0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent194
HP:0001263HP:0001263Global developmental delay0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040282 - Frequent63
HP:0001263HP:0001263Global developmental delay0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent63
HP:0001263HP:0001263Global developmental delay0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent63
HP:0001263HP:0001263Global developmental delay0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0001263HP:0001263Global developmental delay0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0001263HP:0001263Global developmental delay0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001263HP:0001263Global developmental delay0PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040282 - Frequent96
HP:0001263HP:0001263Global developmental delay0PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040282 - Frequent92
HP:0001263HP:0001263Global developmental delay0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001263HP:0001263Global developmental delay0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0001263HP:0001263Global developmental delay0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0001263HP:0001263Global developmental delay0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9HP:0040282 - Frequent225
HP:0001263HP:0001263Global developmental delay0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001263HP:0001263Global developmental delay0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001263HP:0001263Global developmental delay0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0001263HP:0001263Global developmental delay0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0001263HP:0001263Global developmental delay0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0001263HP:0001263Global developmental delay0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0001263HP:0001263Global developmental delay0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001263HP:0001263Global developmental delay0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0001263HP:0001263Global developmental delay0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional11
HP:0001263HP:0001263Global developmental delay0PDCD6IP CL E G H100158766OMIM:620047
HP:0001263HP:0001263Global developmental delay0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0001263HP:0001263Global developmental delay0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0001263HP:0001263Global developmental delay0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0001263HP:0001263Global developmental delay0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 22.1
HP:0001263HP:0001263Global developmental delay0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0001263HP:0001263Global developmental delay0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0001263HP:0001263Global developmental delay0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0001263HP:0001263Global developmental delay0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0001263HP:0001263Global developmental delay0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0001263HP:0001263Global developmental delay0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0001263HP:0001263Global developmental delay0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0001263HP:0001263Global developmental delay0PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiency52
HP:0001263HP:0001263Global developmental delay0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0001263HP:0001263Global developmental delay0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0001263HP:0001263Global developmental delay0PDZD8 CL E G H11898726974OMIM:620021
HP:0001263HP:0001263Global developmental delay0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001263HP:0001263Global developmental delay0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent169
HP:0001263HP:0001263Global developmental delay0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophy169
HP:0001263HP:0001263Global developmental delay0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0001263HP:0001263Global developmental delay0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0001263HP:0001263Global developmental delay0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0001263HP:0001263Global developmental delay0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent75
HP:0001263HP:0001263Global developmental delay0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophy75
HP:0001263HP:0001263Global developmental delay0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger)75
HP:0001263HP:0001263Global developmental delay0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0001263HP:0001263Global developmental delay0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0001263HP:0001263Global developmental delay0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophy4
HP:0001263HP:0001263Global developmental delay0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0001263HP:0001263Global developmental delay0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent65
HP:0001263HP:0001263Global developmental delay0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophy65
HP:0001263HP:0001263Global developmental delay0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001263HP:0001263Global developmental delay0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0001263HP:0001263Global developmental delay0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent66
HP:0001263HP:0001263Global developmental delay0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophy66
HP:0001263HP:0001263Global developmental delay0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0001263HP:0001263Global developmental delay0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0001263HP:0001263Global developmental delay0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent46
HP:0001263HP:0001263Global developmental delay0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophy46
HP:0001263HP:0001263Global developmental delay0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0001263HP:0001263Global developmental delay0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent59
HP:0001263HP:0001263Global developmental delay0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophy59
HP:0001263HP:0001263Global developmental delay0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger)59
HP:0001263HP:0001263Global developmental delay0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0001263HP:0001263Global developmental delay0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0001263HP:0001263Global developmental delay0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent62
HP:0001263HP:0001263Global developmental delay0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophy62
HP:0001263HP:0001263Global developmental delay0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0001263HP:0001263Global developmental delay0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0001263HP:0001263Global developmental delay0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent82
HP:0001263HP:0001263Global developmental delay0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophy82
HP:0001263HP:0001263Global developmental delay0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001263HP:0001263Global developmental delay0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001263HP:0001263Global developmental delay0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0001263HP:0001263Global developmental delay0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent106
HP:0001263HP:0001263Global developmental delay0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophy106
HP:0001263HP:0001263Global developmental delay0PEX26 CL E G H5567022965OMIM:614873Peroxisome biogenesis disorder 7B.106
HP:0001263HP:0001263Global developmental delay0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0001263HP:0001263Global developmental delay0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent47
HP:0001263HP:0001263Global developmental delay0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophy47
HP:0001263HP:0001263Global developmental delay0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger)47
HP:0001263HP:0001263Global developmental delay0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B.47
HP:0001263HP:0001263Global developmental delay0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0001263HP:0001263Global developmental delay0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent99
HP:0001263HP:0001263Global developmental delay0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophy99
HP:0001263HP:0001263Global developmental delay0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001263HP:0001263Global developmental delay0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0001263HP:0001263Global developmental delay0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent98
HP:0001263HP:0001263Global developmental delay0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophy98
HP:0001263HP:0001263Global developmental delay0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0001263HP:0001263Global developmental delay0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0001263HP:0001263Global developmental delay0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0001263HP:0001263Global developmental delay0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001263HP:0001263Global developmental delay0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0001263HP:0001263Global developmental delay0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001263HP:0001263Global developmental delay0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0001263HP:0001263Global developmental delay0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent20
HP:0001263HP:0001263Global developmental delay0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0001263HP:0001263Global developmental delay0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0001263HP:0001263Global developmental delay0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001263HP:0001263Global developmental delay0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0001263HP:0001263Global developmental delay0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0001263HP:0001263Global developmental delay0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent16
HP:0001263HP:0001263Global developmental delay0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0001263HP:0001263Global developmental delay0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0001263HP:0001263Global developmental delay0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0001263HP:0001263Global developmental delay0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0001263HP:0001263Global developmental delay0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001263HP:0001263Global developmental delay0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0001263HP:0001263Global developmental delay0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0001263HP:0001263Global developmental delay0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001263HP:0001263Global developmental delay0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 33.4
HP:0001263HP:0001263Global developmental delay0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0001263HP:0001263Global developmental delay0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III.36
HP:0001263HP:0001263Global developmental delay0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3HP:0040284 - Very rare77
HP:0001263HP:0001263Global developmental delay0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001263HP:0001263Global developmental delay0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0001263HP:0001263Global developmental delay0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0001263HP:0001263Global developmental delay0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001263HP:0001263Global developmental delay0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001263HP:0001263Global developmental delay0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 16.1
HP:0001263HP:0001263Global developmental delay0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001263HP:0001263Global developmental delay0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0001263HP:0001263Global developmental delay0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0001263HP:0001263Global developmental delay0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 17HP:0040284 - Very rare1
HP:0001263HP:0001263Global developmental delay0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0001263HP:0001263Global developmental delay0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent36
HP:0001263HP:0001263Global developmental delay0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0001263HP:0001263Global developmental delay0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040281 - Very frequent37
HP:0001263HP:0001263Global developmental delay0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0001263HP:0001263Global developmental delay0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001263HP:0001263Global developmental delay0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent84
HP:0001263HP:0001263Global developmental delay0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0001263HP:0001263Global developmental delay0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001263HP:0001263Global developmental delay0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0001263HP:0001263Global developmental delay0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001263HP:0001263Global developmental delay0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0001263HP:0001263Global developmental delay0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent57
HP:0001263HP:0001263Global developmental delay0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0001263HP:0001263Global developmental delay0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0001263HP:0001263Global developmental delay0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0001263HP:0001263Global developmental delay0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0001263HP:0001263Global developmental delay0PIK3CA CL E G H52908975ORPHA:99802Hemimegalencephaly162
HP:0001263HP:0001263Global developmental delay0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040282 - Frequent162
HP:0001263HP:0001263Global developmental delay0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0001263HP:0001263Global developmental delay0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0001263HP:0001263Global developmental delay0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0001263HP:0001263Global developmental delay0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0001263HP:0001263Global developmental delay0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001263HP:0001263Global developmental delay0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040283 - Occasional133
HP:0001263HP:0001263Global developmental delay0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0001263HP:0001263Global developmental delay0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0001263HP:0001263Global developmental delay0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0001263HP:0001263Global developmental delay0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0001263HP:0001263Global developmental delay0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0001263HP:0001263Global developmental delay0PLCH1 CL E G H2300729185OMIM:619895
HP:0001263HP:0001263Global developmental delay0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0001263HP:0001263Global developmental delay0PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia3
HP:0001263HP:0001263Global developmental delay0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0001263HP:0001263Global developmental delay0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0001263HP:0001263Global developmental delay0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0001263HP:0001263Global developmental delay0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001263HP:0001263Global developmental delay0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0001263HP:0001263Global developmental delay0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0001263HP:0001263Global developmental delay0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0001263HP:0001263Global developmental delay0PLXNA1 CL E G H53619099OMIM:619955
HP:0001263HP:0001263Global developmental delay0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0001263HP:0001263Global developmental delay0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0001263HP:0001263Global developmental delay0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0001263HP:0001263Global developmental delay0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001263HP:0001263Global developmental delay0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0001263HP:0001263Global developmental delay0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent244
HP:0001263HP:0001263Global developmental delay0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0001263HP:0001263Global developmental delay0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0001263HP:0001263Global developmental delay0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0001263HP:0001263Global developmental delay0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0001263HP:0001263Global developmental delay0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisHP:0040283 - Occasional10
HP:0001263HP:0001263Global developmental delay0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0001263HP:0001263Global developmental delay0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040281 - Very frequent35
HP:0001263HP:0001263Global developmental delay0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001263HP:0001263Global developmental delay0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome.2
HP:0001263HP:0001263Global developmental delay0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0001263HP:0001263Global developmental delay0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001263HP:0001263Global developmental delay0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)HP:0040283 - Occasional464
HP:0001263HP:0001263Global developmental delay0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0001263HP:0001263Global developmental delay0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11.38
HP:0001263HP:0001263Global developmental delay0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0001263HP:0001263Global developmental delay0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0001263HP:0001263Global developmental delay0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismHP:0040282 - Frequent138
HP:0001263HP:0001263Global developmental delay0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0001263HP:0001263Global developmental delay0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0001263HP:0001263Global developmental delay0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001263HP:0001263Global developmental delay0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001263HP:0001263Global developmental delay0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismHP:0040282 - Frequent67
HP:0001263HP:0001263Global developmental delay0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0001263HP:0001263Global developmental delay0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001263HP:0001263Global developmental delay0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0001263HP:0001263Global developmental delay0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0001263HP:0001263Global developmental delay0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0001263HP:0001263Global developmental delay0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.33
HP:0001263HP:0001263Global developmental delay0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0001263HP:0001263Global developmental delay0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0001263HP:0001263Global developmental delay0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0001263HP:0001263Global developmental delay0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0001263HP:0001263Global developmental delay0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent213
HP:0001263HP:0001263Global developmental delay0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0001263HP:0001263Global developmental delay0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0001263HP:0001263Global developmental delay0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0001263HP:0001263Global developmental delay0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0001263HP:0001263Global developmental delay0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent221
HP:0001263HP:0001263Global developmental delay0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0001263HP:0001263Global developmental delay0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0001263HP:0001263Global developmental delay0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0001263HP:0001263Global developmental delay0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0001263HP:0001263Global developmental delay0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0001263HP:0001263Global developmental delay0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0001263HP:0001263Global developmental delay0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001263HP:0001263Global developmental delay0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0001263HP:0001263Global developmental delay0PPFIBP1 CL E G H84969249OMIM:620024
HP:0001263HP:0001263Global developmental delay0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0001263HP:0001263Global developmental delay0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001263HP:0001263Global developmental delay0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001263HP:0001263Global developmental delay0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001263HP:0001263Global developmental delay0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0001263HP:0001263Global developmental delay0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0001263HP:0001263Global developmental delay0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0001263HP:0001263Global developmental delay0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040281 - Very frequent10
HP:0001263HP:0001263Global developmental delay0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0001263HP:0001263Global developmental delay0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0001263HP:0001263Global developmental delay0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0001263HP:0001263Global developmental delay0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0001263HP:0001263Global developmental delay0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0001263HP:0001263Global developmental delay0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040281 - Very frequent28
HP:0001263HP:0001263Global developmental delay0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040282 - Frequent28
HP:0001263HP:0001263Global developmental delay0PRDM13 CL E G H5933613998OMIM:6199092
HP:0001263HP:0001263Global developmental delay0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0001263HP:0001263Global developmental delay0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0001263HP:0001263Global developmental delay0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001263HP:0001263Global developmental delay0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0001263HP:0001263Global developmental delay0PRIM1 CL E G H55579369OMIM:620005
HP:0001263HP:0001263Global developmental delay0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0001263HP:0001263Global developmental delay0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0001263HP:0001263Global developmental delay0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0001263HP:0001263Global developmental delay0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0001263HP:0001263Global developmental delay0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0001263HP:0001263Global developmental delay0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive.65
HP:0001263HP:0001263Global developmental delay0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0001263HP:0001263Global developmental delay0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0001263HP:0001263Global developmental delay0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0001263HP:0001263Global developmental delay0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0001263HP:0001263Global developmental delay0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001263HP:0001263Global developmental delay0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0001263HP:0001263Global developmental delay0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0001263HP:0001263Global developmental delay0PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040284 - Very rare49
HP:0001263HP:0001263Global developmental delay0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0001263HP:0001263Global developmental delay0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001263HP:0001263Global developmental delay0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0001263HP:0001263Global developmental delay0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001263HP:0001263Global developmental delay0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0001263HP:0001263Global developmental delay0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001263HP:0001263Global developmental delay0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency.27
HP:0001263HP:0001263Global developmental delay0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001263HP:0001263Global developmental delay0PSMB1 CL E G H56899537OMIM:6200382
HP:0001263HP:0001263Global developmental delay0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0001263HP:0001263Global developmental delay0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0001263HP:0001263Global developmental delay0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040282 - Frequent54
HP:0001263HP:0001263Global developmental delay0PSPH CL E G H57239577OMIM:614023Phosphoserine phosphatase deficiency.54
HP:0001263HP:0001263Global developmental delay0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0001263HP:0001263Global developmental delay0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0001263HP:0001263Global developmental delay0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent948
HP:0001263HP:0001263Global developmental delay0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0001263HP:0001263Global developmental delay0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0001263HP:0001263Global developmental delay0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0001263HP:0001263Global developmental delay0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0001263HP:0001263Global developmental delay0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0001263HP:0001263Global developmental delay0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001263HP:0001263Global developmental delay0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0001263HP:0001263Global developmental delay0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001263HP:0001263Global developmental delay0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040281 - Very frequent19
HP:0001263HP:0001263Global developmental delay0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0001263HP:0001263Global developmental delay0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0001263HP:0001263Global developmental delay0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040281 - Very frequent53
HP:0001263HP:0001263Global developmental delay0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0001263HP:0001263Global developmental delay0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0001263HP:0001263Global developmental delay0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0001263HP:0001263Global developmental delay0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001263HP:0001263Global developmental delay0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent11
HP:0001263HP:0001263Global developmental delay0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0001263HP:0001263Global developmental delay0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0001263HP:0001263Global developmental delay0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0001263HP:0001263Global developmental delay0QDPR CL E G H58609752ORPHA:226Dihydropteridine reductase deficiencyHP:0040281 - Very frequent43
HP:0001263HP:0001263Global developmental delay0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001263HP:0001263Global developmental delay0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0001263HP:0001263Global developmental delay0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0001263HP:0001263Global developmental delay0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0001263HP:0001263Global developmental delay0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 7234
HP:0001263HP:0001263Global developmental delay0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0001263HP:0001263Global developmental delay0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0001263HP:0001263Global developmental delay0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0001263HP:0001263Global developmental delay0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0001263HP:0001263Global developmental delay0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001263HP:0001263Global developmental delay0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0001263HP:0001263Global developmental delay0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0001263HP:0001263Global developmental delay0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040281 - Very frequent3
HP:0001263HP:0001263Global developmental delay0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0001263HP:0001263Global developmental delay0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0001263HP:0001263Global developmental delay0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040282 - Frequent391
HP:0001263HP:0001263Global developmental delay0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001263HP:0001263Global developmental delay0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0001263HP:0001263Global developmental delay0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001263HP:0001263Global developmental delay0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0001263HP:0001263Global developmental delay0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0001263HP:0001263Global developmental delay0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0001263HP:0001263Global developmental delay0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0001263HP:0001263Global developmental delay0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0001263HP:0001263Global developmental delay0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0001263HP:0001263Global developmental delay0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001263HP:0001263Global developmental delay0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001263HP:0001263Global developmental delay0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0001263HP:0001263Global developmental delay0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0001263HP:0001263Global developmental delay0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001263HP:0001263Global developmental delay0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional95
HP:0001263HP:0001263Global developmental delay0RDH11 CL E G H5110917964OMIM:616108Retinal dystrophy, juvenile cataracts, and short stature syndrome.2
HP:0001263HP:0001263Global developmental delay0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional45
HP:0001263HP:0001263Global developmental delay0REEP1 CL E G H6505525786OMIM:62001187
HP:0001263HP:0001263Global developmental delay0RELN CL E G H56499957OMIM:257320Lissencephaly 2334
HP:0001263HP:0001263Global developmental delay0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0001263HP:0001263Global developmental delay0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0001263HP:0001263Global developmental delay0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001263HP:0001263Global developmental delay0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040282 - Frequent16
HP:0001263HP:0001263Global developmental delay0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0001263HP:0001263Global developmental delay0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001263HP:0001263Global developmental delay0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040280 - Obligate92
HP:0001263HP:0001263Global developmental delay0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0001263HP:0001263Global developmental delay0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0001263HP:0001263Global developmental delay0RIMS2 CL E G H969917283OMIM:618970CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS2
HP:0001263HP:0001263Global developmental delay0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001263HP:0001263Global developmental delay0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0001263HP:0001263Global developmental delay0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0001263HP:0001263Global developmental delay0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0001263HP:0001263Global developmental delay0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent60
HP:0001263HP:0001263Global developmental delay0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0001263HP:0001263Global developmental delay0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephaly37
HP:0001263HP:0001263Global developmental delay0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001263HP:0001263Global developmental delay0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0001263HP:0001263Global developmental delay0RNF168 CL E G H16591826661OMIM:611943Riddle syndrome7
HP:0001263HP:0001263Global developmental delay0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0001263HP:0001263Global developmental delay0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001263HP:0001263Global developmental delay0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0001263HP:0001263Global developmental delay0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0001263HP:0001263Global developmental delay0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0001263HP:0001263Global developmental delay0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001263HP:0001263Global developmental delay0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0001263HP:0001263Global developmental delay0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0001263HP:0001263Global developmental delay0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndromeHP:0040283 - Occasional57
HP:0001263HP:0001263Global developmental delay0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0001263HP:0001263Global developmental delay0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001263HP:0001263Global developmental delay0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0001263HP:0001263Global developmental delay0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional129
HP:0001263HP:0001263Global developmental delay0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0001263HP:0001263Global developmental delay0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional109
HP:0001263HP:0001263Global developmental delay0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0001263HP:0001263Global developmental delay0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0001263HP:0001263Global developmental delay0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent167
HP:0001263HP:0001263Global developmental delay0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0001263HP:0001263Global developmental delay0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001263HP:0001263Global developmental delay0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0001263HP:0001263Global developmental delay0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0001263HP:0001263Global developmental delay0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0001263HP:0001263Global developmental delay0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0001263HP:0001263Global developmental delay0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0001263HP:0001263Global developmental delay0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0001263HP:0001263Global developmental delay0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5HP:0040281 - Very frequent77
HP:0001263HP:0001263Global developmental delay0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0001263HP:0001263Global developmental delay0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0001263HP:0001263Global developmental delay0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001263HP:0001263Global developmental delay0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0001263HP:0001263Global developmental delay0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0001263HP:0001263Global developmental delay0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001263HP:0001263Global developmental delay0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001263HP:0001263Global developmental delay0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent55
HP:0001263HP:0001263Global developmental delay0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0001263HP:0001263Global developmental delay0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0001263HP:0001263Global developmental delay0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0001263HP:0001263Global developmental delay0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0001263HP:0001263Global developmental delay0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0001263HP:0001263Global developmental delay0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001263HP:0001263Global developmental delay0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0001263HP:0001263Global developmental delay0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040281 - Very frequent34
HP:0001263HP:0001263Global developmental delay0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001263HP:0001263Global developmental delay0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040281 - Very frequent80
HP:0001263HP:0001263Global developmental delay0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001263HP:0001263Global developmental delay0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0001263HP:0001263Global developmental delay0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0001263HP:0001263Global developmental delay0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent126
HP:0001263HP:0001263Global developmental delay0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0001263HP:0001263Global developmental delay0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent427
HP:0001263HP:0001263Global developmental delay0SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11.427
HP:0001263HP:0001263Global developmental delay0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 4HP:0040284 - Very rare70
HP:0001263HP:0001263Global developmental delay0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0001263HP:0001263Global developmental delay0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0001263HP:0001263Global developmental delay0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia.357
HP:0001263HP:0001263Global developmental delay0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13.357
HP:0001263HP:0001263Global developmental delay0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0001263HP:0001263Global developmental delay0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.40
HP:0001263HP:0001263Global developmental delay0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0001263HP:0001263Global developmental delay0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0001263HP:0001263Global developmental delay0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001263HP:0001263Global developmental delay0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0001263HP:0001263Global developmental delay0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0001263HP:0001263Global developmental delay0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0001263HP:0001263Global developmental delay0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0001263HP:0001263Global developmental delay0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0001263HP:0001263Global developmental delay0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0001263HP:0001263Global developmental delay0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0001263HP:0001263Global developmental delay0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0001263HP:0001263Global developmental delay0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0001263HP:0001263Global developmental delay0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0001263HP:0001263Global developmental delay0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0001263HP:0001263Global developmental delay0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0001263HP:0001263Global developmental delay0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0001263HP:0001263Global developmental delay0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040283 - Occasional5
HP:0001263HP:0001263Global developmental delay0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040283 - Occasional144
HP:0001263HP:0001263Global developmental delay0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0001263HP:0001263Global developmental delay0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0001263HP:0001263Global developmental delay0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001263HP:0001263Global developmental delay0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0001263HP:0001263Global developmental delay0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0001263HP:0001263Global developmental delay0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001263HP:0001263Global developmental delay0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0001263HP:0001263Global developmental delay0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0001263HP:0001263Global developmental delay0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0001263HP:0001263Global developmental delay0SETD1A CL E G H973929010OMIM:618832EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD6
HP:0001263HP:0001263Global developmental delay0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0001263HP:0001263Global developmental delay0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001263HP:0001263Global developmental delay0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome.60
HP:0001263HP:0001263Global developmental delay0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0001263HP:0001263Global developmental delay0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0001263HP:0001263Global developmental delay0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0001263HP:0001263Global developmental delay0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0001263HP:0001263Global developmental delay0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0001263HP:0001263Global developmental delay0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0001263HP:0001263Global developmental delay0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA97
HP:0001263HP:0001263Global developmental delay0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0001263HP:0001263Global developmental delay0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0001263HP:0001263Global developmental delay0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0001263HP:0001263Global developmental delay0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001263HP:0001263Global developmental delay0SHQ1 CL E G H5516425543OMIM:619922
HP:0001263HP:0001263Global developmental delay0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0001263HP:0001263Global developmental delay0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent11
HP:0001263HP:0001263Global developmental delay0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent11
HP:0001263HP:0001263Global developmental delay0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0001263HP:0001263Global developmental delay0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0001263HP:0001263Global developmental delay0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001263HP:0001263Global developmental delay0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040281 - Very frequent9
HP:0001263HP:0001263Global developmental delay0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0001263HP:0001263Global developmental delay0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0001263HP:0001263Global developmental delay0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0001263HP:0001263Global developmental delay0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0001263HP:0001263Global developmental delay0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0001263HP:0001263Global developmental delay0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0001263HP:0001263Global developmental delay0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisHP:0040284 - Very rare
HP:0001263HP:0001263Global developmental delay0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001263HP:0001263Global developmental delay0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0001263HP:0001263Global developmental delay0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0001263HP:0001263Global developmental delay0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0001263HP:0001263Global developmental delay0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0001263HP:0001263Global developmental delay0SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndromeHP:0040281 - Very frequent163
HP:0001263HP:0001263Global developmental delay0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0001263HP:0001263Global developmental delay0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0001263HP:0001263Global developmental delay0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0001263HP:0001263Global developmental delay0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0001263HP:0001263Global developmental delay0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001263HP:0001263Global developmental delay0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0001263HP:0001263Global developmental delay0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0001263HP:0001263Global developmental delay0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndromeHP:0040283 - Occasional55
HP:0001263HP:0001263Global developmental delay0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040281 - Very frequent110
HP:0001263HP:0001263Global developmental delay0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0001263HP:0001263Global developmental delay0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)HP:0040283 - Occasional110
HP:0001263HP:0001263Global developmental delay0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0001263HP:0001263Global developmental delay0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001263HP:0001263Global developmental delay0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0001263HP:0001263Global developmental delay0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0001263HP:0001263Global developmental delay0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0001263HP:0001263Global developmental delay0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0001263HP:0001263Global developmental delay0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0001263HP:0001263Global developmental delay0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 39.44
HP:0001263HP:0001263Global developmental delay0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0001263HP:0001263Global developmental delay0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0001263HP:0001263Global developmental delay0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephaly36
HP:0001263HP:0001263Global developmental delay0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0001263HP:0001263Global developmental delay0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent166
HP:0001263HP:0001263Global developmental delay0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent166
HP:0001263HP:0001263Global developmental delay0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0001263HP:0001263Global developmental delay0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionHP:0040284 - Very rare1
HP:0001263HP:0001263Global developmental delay0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0001263HP:0001263Global developmental delay0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0001263HP:0001263Global developmental delay0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0001263HP:0001263Global developmental delay0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040282 - Frequent274
HP:0001263HP:0001263Global developmental delay0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent274
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040281 - Very frequent255
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040282 - Frequent255
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0001263HP:0001263Global developmental delay0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0001263HP:0001263Global developmental delay0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0001263HP:0001263Global developmental delay0SLC2A2 CL E G H651411006OMIM:227810Fanconi-Bickel syndrome.71
HP:0001263HP:0001263Global developmental delay0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0001263HP:0001263Global developmental delay0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0001263HP:0001263Global developmental delay0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001263HP:0001263Global developmental delay0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0001263HP:0001263Global developmental delay0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040281 - Very frequent27
HP:0001263HP:0001263Global developmental delay0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0001263HP:0001263Global developmental delay0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0001263HP:0001263Global developmental delay0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0001263HP:0001263Global developmental delay0SLC38A3 CL E G H1099118044OMIM:619881
HP:0001263HP:0001263Global developmental delay0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0001263HP:0001263Global developmental delay0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2HP:0040283 - Occasional5
HP:0001263HP:0001263Global developmental delay0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0001263HP:0001263Global developmental delay0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0001263HP:0001263Global developmental delay0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0001263HP:0001263Global developmental delay0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0001263HP:0001263Global developmental delay0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001263HP:0001263Global developmental delay0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040281 - Very frequent101
HP:0001263HP:0001263Global developmental delay0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001263HP:0001263Global developmental delay0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0001263HP:0001263Global developmental delay0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0001263HP:0001263Global developmental delay0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0001263HP:0001263Global developmental delay0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040283 - Occasional12
HP:0001263HP:0001263Global developmental delay0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder.12
HP:0001263HP:0001263Global developmental delay0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0001263HP:0001263Global developmental delay0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0001263HP:0001263Global developmental delay0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0001263HP:0001263Global developmental delay0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0001263HP:0001263Global developmental delay0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040281 - Very frequent122
HP:0001263HP:0001263Global developmental delay0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0001263HP:0001263Global developmental delay0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0001263HP:0001263Global developmental delay0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0001263HP:0001263Global developmental delay0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0001263HP:0001263Global developmental delay0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040282 - Frequent274
HP:0001263HP:0001263Global developmental delay0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0001263HP:0001263Global developmental delay0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0001263HP:0001263Global developmental delay0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001263HP:0001263Global developmental delay0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0001263HP:0001263Global developmental delay0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0001263HP:0001263Global developmental delay0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0001263HP:0001263Global developmental delay0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001263HP:0001263Global developmental delay0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001263HP:0001263Global developmental delay0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0001263HP:0001263Global developmental delay0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001263HP:0001263Global developmental delay0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001263HP:0001263Global developmental delay0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0001263HP:0001263Global developmental delay0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0001263HP:0001263Global developmental delay0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0001263HP:0001263Global developmental delay0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001263HP:0001263Global developmental delay0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001263HP:0001263Global developmental delay0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001263HP:0001263Global developmental delay0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0001263HP:0001263Global developmental delay0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0001263HP:0001263Global developmental delay0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0001263HP:0001263Global developmental delay0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0001263HP:0001263Global developmental delay0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0001263HP:0001263Global developmental delay0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0001263HP:0001263Global developmental delay0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0001263HP:0001263Global developmental delay0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0001263HP:0001263Global developmental delay0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0001263HP:0001263Global developmental delay0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001263HP:0001263Global developmental delay0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0001263HP:0001263Global developmental delay0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent37
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001263HP:0001263Global developmental delay0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001263HP:0001263Global developmental delay0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0001263HP:0001263Global developmental delay0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001263HP:0001263Global developmental delay0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0001263HP:0001263Global developmental delay0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0001263HP:0001263Global developmental delay0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001263HP:0001263Global developmental delay0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0001263HP:0001263Global developmental delay0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001263HP:0001263Global developmental delay0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0001263HP:0001263Global developmental delay0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0001263HP:0001263Global developmental delay0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndromeHP:0040283 - Occasional7
HP:0001263HP:0001263Global developmental delay0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0001263HP:0001263Global developmental delay0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0001263HP:0001263Global developmental delay0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0001263HP:0001263Global developmental delay0SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency.24
HP:0001263HP:0001263Global developmental delay0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0001263HP:0001263Global developmental delay0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0001263HP:0001263Global developmental delay0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome11
HP:0001263HP:0001263Global developmental delay0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0001263HP:0001263Global developmental delay0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001263HP:0001263Global developmental delay0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0001263HP:0001263Global developmental delay0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001263HP:0001263Global developmental delay0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0001263HP:0001263Global developmental delay0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040281 - Very frequent19
HP:0001263HP:0001263Global developmental delay0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0001263HP:0001263Global developmental delay0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional48
HP:0001263HP:0001263Global developmental delay0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0001263HP:0001263Global developmental delay0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0001263HP:0001263Global developmental delay0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001263HP:0001263Global developmental delay0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0001263HP:0001263Global developmental delay0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0001263HP:0001263Global developmental delay0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0001263HP:0001263Global developmental delay0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040282 - Frequent100
HP:0001263HP:0001263Global developmental delay0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0001263HP:0001263Global developmental delay0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0001263HP:0001263Global developmental delay0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001263HP:0001263Global developmental delay0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001263HP:0001263Global developmental delay0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0001263HP:0001263Global developmental delay0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5HP:0040283 - Occasional126
HP:0001263HP:0001263Global developmental delay0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0001263HP:0001263Global developmental delay0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.3
HP:0001263HP:0001263Global developmental delay0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0001263HP:0001263Global developmental delay0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0001263HP:0001263Global developmental delay0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040281 - Very frequent80
HP:0001263HP:0001263Global developmental delay0SRP54 CL E G H672911301OMIM:618752NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001263HP:0001263Global developmental delay0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001263HP:0001263Global developmental delay0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0001263HP:0001263Global developmental delay0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0001263HP:0001263Global developmental delay0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040280 - Obligate12
HP:0001263HP:0001263Global developmental delay0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0001263HP:0001263Global developmental delay0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001263HP:0001263Global developmental delay0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0001263HP:0001263Global developmental delay0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040281 - Very frequent9
HP:0001263HP:0001263Global developmental delay0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0001263HP:0001263Global developmental delay0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0001263HP:0001263Global developmental delay0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0001263HP:0001263Global developmental delay0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001263HP:0001263Global developmental delay0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent110
HP:0001263HP:0001263Global developmental delay0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001263HP:0001263Global developmental delay0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent99
HP:0001263HP:0001263Global developmental delay0STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive99
HP:0001263HP:0001263Global developmental delay0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0001263HP:0001263Global developmental delay0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0001263HP:0001263Global developmental delay0STT3A CL E G H37036172OMIM:615596Congenital disorder of glycosylation, type Iw.21
HP:0001263HP:0001263Global developmental delay0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040280 - Obligate21
HP:0001263HP:0001263Global developmental delay0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0001263HP:0001263Global developmental delay0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040280 - Obligate18
HP:0001263HP:0001263Global developmental delay0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0001263HP:0001263Global developmental delay0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0001263HP:0001263Global developmental delay0STX1B CL E G H11275518539OMIM:616172Generalized epilepsy with febrile seizures plus, type 9HP:0040283 - Occasional9
HP:0001263HP:0001263Global developmental delay0STX3 CL E G H680911438ORPHA:2290Microvillus inclusion diseaseHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0001263HP:0001263Global developmental delay0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0001263HP:0001263Global developmental delay0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001263HP:0001263Global developmental delay0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0001263HP:0001263Global developmental delay0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040281 - Very frequent60
HP:0001263HP:0001263Global developmental delay0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001263HP:0001263Global developmental delay0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040281 - Very frequent124
HP:0001263HP:0001263Global developmental delay0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0001263HP:0001263Global developmental delay0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0001263HP:0001263Global developmental delay0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0001263HP:0001263Global developmental delay0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0001263HP:0001263Global developmental delay0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0001263HP:0001263Global developmental delay0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001263HP:0001263Global developmental delay0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0001263HP:0001263Global developmental delay0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0001263HP:0001263Global developmental delay0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001263HP:0001263Global developmental delay0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0001263HP:0001263Global developmental delay0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5.108
HP:0001263HP:0001263Global developmental delay0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0001263HP:0001263Global developmental delay0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0001263HP:0001263Global developmental delay0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040281 - Very frequent108
HP:0001263HP:0001263Global developmental delay0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0001263HP:0001263Global developmental delay0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0001263HP:0001263Global developmental delay0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0001263HP:0001263Global developmental delay0SZT2 CL E G H2333429040OMIM:615476Epileptic encephalopathy, early infantile, 18.123
HP:0001263HP:0001263Global developmental delay0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0001263HP:0001263Global developmental delay0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0001263HP:0001263Global developmental delay0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001263HP:0001263Global developmental delay0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0001263HP:0001263Global developmental delay0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 60.2
HP:0001263HP:0001263Global developmental delay0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 40.7
HP:0001263HP:0001263Global developmental delay0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0001263HP:0001263Global developmental delay0TAF8 CL E G H12968517300OMIM:619972
HP:0001263HP:0001263Global developmental delay0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0001263HP:0001263Global developmental delay0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040283 - Occasional34
HP:0001263HP:0001263Global developmental delay0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001263HP:0001263Global developmental delay0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0001263HP:0001263Global developmental delay0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001263HP:0001263Global developmental delay0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 21.28
HP:0001263HP:0001263Global developmental delay0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001263HP:0001263Global developmental delay0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0001263HP:0001263Global developmental delay0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile271
HP:0001263HP:0001263Global developmental delay0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0001263HP:0001263Global developmental delay0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001263HP:0001263Global developmental delay0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0001263HP:0001263Global developmental delay0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0001263HP:0001263Global developmental delay0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0001263HP:0001263Global developmental delay0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0001263HP:0001263Global developmental delay0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0001263HP:0001263Global developmental delay0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0001263HP:0001263Global developmental delay0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0001263HP:0001263Global developmental delay0TBL1XR1 CL E G H7971829529OMIM:616944Mental retardation, autosomal dominant 4122
HP:0001263HP:0001263Global developmental delay0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0001263HP:0001263Global developmental delay0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0001263HP:0001263Global developmental delay0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0001263HP:0001263Global developmental delay0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0001263HP:0001263Global developmental delay0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0001263HP:0001263Global developmental delay0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0001263HP:0001263Global developmental delay0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0001263HP:0001263Global developmental delay0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0001263HP:0001263Global developmental delay0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3HP:0040283 - Occasional28
HP:0001263HP:0001263Global developmental delay0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0001263HP:0001263Global developmental delay0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0001263HP:0001263Global developmental delay0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0001263HP:0001263Global developmental delay0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040281 - Very frequent45
HP:0001263HP:0001263Global developmental delay0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040281 - Very frequent76
HP:0001263HP:0001263Global developmental delay0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0001263HP:0001263Global developmental delay0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0001263HP:0001263Global developmental delay0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0001263HP:0001263Global developmental delay0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0001263HP:0001263Global developmental delay0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0001263HP:0001263Global developmental delay0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0001263HP:0001263Global developmental delay0TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome.12
HP:0001263HP:0001263Global developmental delay0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0001263HP:0001263Global developmental delay0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0001263HP:0001263Global developmental delay0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0001263HP:0001263Global developmental delay0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001263HP:0001263Global developmental delay0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0001263HP:0001263Global developmental delay0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0001263HP:0001263Global developmental delay0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001263HP:0001263Global developmental delay0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0001263HP:0001263Global developmental delay0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0001263HP:0001263Global developmental delay0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001263HP:0001263Global developmental delay0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0001263HP:0001263Global developmental delay0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0001263HP:0001263Global developmental delay0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001263HP:0001263Global developmental delay0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001263HP:0001263Global developmental delay0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0001263HP:0001263Global developmental delay0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0THUMPD1 CL E G H5562323807OMIM:619989
HP:0001263HP:0001263Global developmental delay0TIAM1 CL E G H707411805OMIM:6199082
HP:0001263HP:0001263Global developmental delay0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0001263HP:0001263Global developmental delay0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0001263HP:0001263Global developmental delay0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0001263HP:0001263Global developmental delay0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0001263HP:0001263Global developmental delay0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001263HP:0001263Global developmental delay0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001263HP:0001263Global developmental delay0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0001263HP:0001263Global developmental delay0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0001263HP:0001263Global developmental delay0TM4SF20 CL E G H7985326230OMIM:615432SPECIFIC LANGUAGE IMPAIRMENT 5; SLI53
HP:0001263HP:0001263Global developmental delay0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0001263HP:0001263Global developmental delay0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0001263HP:0001263Global developmental delay0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0001263HP:0001263Global developmental delay0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0001263HP:0001263Global developmental delay0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent39
HP:0001263HP:0001263Global developmental delay0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0001263HP:0001263Global developmental delay0TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIPHP:0040283 - Occasional4
HP:0001263HP:0001263Global developmental delay0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0001263HP:0001263Global developmental delay0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent45
HP:0001263HP:0001263Global developmental delay0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0001263HP:0001263Global developmental delay0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0001263HP:0001263Global developmental delay0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0001263HP:0001263Global developmental delay0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040280 - Obligate33
HP:0001263HP:0001263Global developmental delay0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent33
HP:0001263HP:0001263Global developmental delay0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040281 - Very frequent82
HP:0001263HP:0001263Global developmental delay0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0001263HP:0001263Global developmental delay0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent82
HP:0001263HP:0001263Global developmental delay0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent82
HP:0001263HP:0001263Global developmental delay0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0001263HP:0001263Global developmental delay0TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0001263HP:0001263Global developmental delay0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001263HP:0001263Global developmental delay0TMEM67 CL E G H9114728396OMIM:615991Bardet-Biedl syndrome 14.166
HP:0001263HP:0001263Global developmental delay0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0001263HP:0001263Global developmental delay0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040281 - Very frequent166
HP:0001263HP:0001263Global developmental delay0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0001263HP:0001263Global developmental delay0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0001263HP:0001263Global developmental delay0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0001263HP:0001263Global developmental delay0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathy63
HP:0001263HP:0001263Global developmental delay0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0001263HP:0001263Global developmental delay0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0001263HP:0001263Global developmental delay0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0001263HP:0001263Global developmental delay0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0001263HP:0001263Global developmental delay0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001263HP:0001263Global developmental delay0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0001263HP:0001263Global developmental delay0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001263HP:0001263Global developmental delay0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0001263HP:0001263Global developmental delay0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0001263HP:0001263Global developmental delay0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2HP:0040284 - Very rare
HP:0001263HP:0001263Global developmental delay0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0001263HP:0001263Global developmental delay0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001263HP:0001263Global developmental delay0TP53 CL E G H715711998OMIM:618165Bone marrow failure syndrome 5.911
HP:0001263HP:0001263Global developmental delay0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0001263HP:0001263Global developmental delay0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001263HP:0001263Global developmental delay0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)HP:0040283 - Occasional21
HP:0001263HP:0001263Global developmental delay0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001263HP:0001263Global developmental delay0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001263HP:0001263Global developmental delay0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5.
HP:0001263HP:0001263Global developmental delay0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0001263HP:0001263Global developmental delay0TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 9HP:0040283 - Occasional6
HP:0001263HP:0001263Global developmental delay0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0001263HP:0001263Global developmental delay0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0001263HP:0001263Global developmental delay0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0001263HP:0001263Global developmental delay0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0001263HP:0001263Global developmental delay0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0001263HP:0001263Global developmental delay0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0001263HP:0001263Global developmental delay0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0001263HP:0001263Global developmental delay0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0001263HP:0001263Global developmental delay0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0001263HP:0001263Global developmental delay0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0001263HP:0001263Global developmental delay0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0001263HP:0001263Global developmental delay0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0001263HP:0001263Global developmental delay0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0001263HP:0001263Global developmental delay0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0001263HP:0001263Global developmental delay0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0001263HP:0001263Global developmental delay0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent56
HP:0001263HP:0001263Global developmental delay0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001263HP:0001263Global developmental delay0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0001263HP:0001263Global developmental delay0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0001263HP:0001263Global developmental delay0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001263HP:0001263Global developmental delay0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0001263HP:0001263Global developmental delay0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 3HP:0040284 - Very rare2
HP:0001263HP:0001263Global developmental delay0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0001263HP:0001263Global developmental delay0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0001263HP:0001263Global developmental delay0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0001263HP:0001263Global developmental delay0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 17
HP:0001263HP:0001263Global developmental delay0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0001263HP:0001263Global developmental delay0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0001263HP:0001263Global developmental delay0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001263HP:0001263Global developmental delay0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0001263HP:0001263Global developmental delay0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0001263HP:0001263Global developmental delay0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001263HP:0001263Global developmental delay0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001263HP:0001263Global developmental delay0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0001263HP:0001263Global developmental delay0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0001263HP:0001263Global developmental delay0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0001263HP:0001263Global developmental delay0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0001263HP:0001263Global developmental delay0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0001263HP:0001263Global developmental delay0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0001263HP:0001263Global developmental delay0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0001263HP:0001263Global developmental delay0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4102
HP:0001263HP:0001263Global developmental delay0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0001263HP:0001263Global developmental delay0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040282 - Frequent97
HP:0001263HP:0001263Global developmental delay0TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptorHP:0040282 - Frequent97
HP:0001263HP:0001263Global developmental delay0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent97
HP:0001263HP:0001263Global developmental delay0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0001263HP:0001263Global developmental delay0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2HP:0040283 - Occasional88
HP:0001263HP:0001263Global developmental delay0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001263HP:0001263Global developmental delay0TTC8 CL E G H12301620087OMIM:615985Bardet-Biedl syndrome 8.41
HP:0001263HP:0001263Global developmental delay0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0001263HP:0001263Global developmental delay0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0001263HP:0001263Global developmental delay0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0001263HP:0001263Global developmental delay0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0001263HP:0001263Global developmental delay0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0001263HP:0001263Global developmental delay0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 6.14
HP:0001263HP:0001263Global developmental delay0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0001263HP:0001263Global developmental delay0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0001263HP:0001263Global developmental delay0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0001263HP:0001263Global developmental delay0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040282 - Frequent39
HP:0001263HP:0001263Global developmental delay0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0001263HP:0001263Global developmental delay0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040281 - Very frequent64
HP:0001263HP:0001263Global developmental delay0TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 1.64
HP:0001263HP:0001263Global developmental delay0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0001263HP:0001263Global developmental delay0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0001263HP:0001263Global developmental delay0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent14
HP:0001263HP:0001263Global developmental delay0TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 4.14
HP:0001263HP:0001263Global developmental delay0TUBGCP4 CL E G H2722916691OMIM:616335Microcephaly and chorioretinopathy, autosomal recessive, 3.14
HP:0001263HP:0001263Global developmental delay0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0001263HP:0001263Global developmental delay0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional66
HP:0001263HP:0001263Global developmental delay0TUSC3 CL E G H799130242OMIM:611093Mental retardation, autosomal recessive 776
HP:0001263HP:0001263Global developmental delay0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0001263HP:0001263Global developmental delay0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040282 - Frequent7
HP:0001263HP:0001263Global developmental delay0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0001263HP:0001263Global developmental delay0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0001263HP:0001263Global developmental delay0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0001263HP:0001263Global developmental delay0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001263HP:0001263Global developmental delay0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040282 - Frequent2
HP:0001263HP:0001263Global developmental delay0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040281 - Very frequent278
HP:0001263HP:0001263Global developmental delay0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0001263HP:0001263Global developmental delay0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0001263HP:0001263Global developmental delay0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040281 - Very frequent278
HP:0001263HP:0001263Global developmental delay0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0001263HP:0001263Global developmental delay0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0001263HP:0001263Global developmental delay0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophyHP:0040284 - Very rare1
HP:0001263HP:0001263Global developmental delay0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0UFSP2 CL E G H5532525640OMIM:6200282
HP:0001263HP:0001263Global developmental delay0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001263HP:0001263Global developmental delay0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001263HP:0001263Global developmental delay0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040281 - Very frequent135
HP:0001263HP:0001263Global developmental delay0UMPS CL E G H737212563OMIM:258900Orotic aciduriaHP:0040283 - Occasional135
HP:0001263HP:0001263Global developmental delay0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001263HP:0001263Global developmental delay0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001263HP:0001263Global developmental delay0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0001263HP:0001263Global developmental delay0UPB1 CL E G H5173316297OMIM:613161Beta-Ureidopropionase deficiency.44
HP:0001263HP:0001263Global developmental delay0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0001263HP:0001263Global developmental delay0UQCC3 CL E G H79095534399OMIM:616111Mitochondrial complex III deficiency, nuclear type 9.6
HP:0001263HP:0001263Global developmental delay0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0001263HP:0001263Global developmental delay0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0001263HP:0001263Global developmental delay0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0001263HP:0001263Global developmental delay0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0001263HP:0001263Global developmental delay0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0001263HP:0001263Global developmental delay0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional
HP:0001263HP:0001263Global developmental delay0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0001263HP:0001263Global developmental delay0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0001263HP:0001263Global developmental delay0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0001263HP:0001263Global developmental delay0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040281 - Very frequent27
HP:0001263HP:0001263Global developmental delay0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0001263HP:0001263Global developmental delay0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0001263HP:0001263Global developmental delay0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0001263HP:0001263Global developmental delay0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 20HP:0040283 - Occasional56
HP:0001263HP:0001263Global developmental delay0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0001263HP:0001263Global developmental delay0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0001263HP:0001263Global developmental delay0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0001263HP:0001263Global developmental delay0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0001263HP:0001263Global developmental delay0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0001263HP:0001263Global developmental delay0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0001263HP:0001263Global developmental delay0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001263HP:0001263Global developmental delay0VPS33B CL E G H2627612712OMIM:62000963
HP:0001263HP:0001263Global developmental delay0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001263HP:0001263Global developmental delay0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001263HP:0001263Global developmental delay0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0001263HP:0001263Global developmental delay0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0001263HP:0001263Global developmental delay0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessiveHP:0040283 - Occasional7
HP:0001263HP:0001263Global developmental delay0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001263HP:0001263Global developmental delay0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001263HP:0001263Global developmental delay0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001263HP:0001263Global developmental delay0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001263HP:0001263Global developmental delay0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0001263HP:0001263Global developmental delay0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0001263HP:0001263Global developmental delay0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0001263HP:0001263Global developmental delay0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040281 - Very frequent20
HP:0001263HP:0001263Global developmental delay0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040281 - Very frequent20
HP:0001263HP:0001263Global developmental delay0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0001263HP:0001263Global developmental delay0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040281 - Very frequent2
HP:0001263HP:0001263Global developmental delay0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 43.25
HP:0001263HP:0001263Global developmental delay0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040281 - Very frequent83
HP:0001263HP:0001263Global developmental delay0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0001263HP:0001263Global developmental delay0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001263HP:0001263Global developmental delay0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0001263HP:0001263Global developmental delay0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0001263HP:0001263Global developmental delay0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0001263HP:0001263Global developmental delay0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0001263HP:0001263Global developmental delay0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2HP:0040284 - Very rare136
HP:0001263HP:0001263Global developmental delay0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001263HP:0001263Global developmental delay0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0001263HP:0001263Global developmental delay0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0001263HP:0001263Global developmental delay0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0001263HP:0001263Global developmental delay0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0001263HP:0001263Global developmental delay0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0001263HP:0001263Global developmental delay0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0001263HP:0001263Global developmental delay0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent224
HP:0001263HP:0001263Global developmental delay0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0001263HP:0001263Global developmental delay0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent14
HP:0001263HP:0001263Global developmental delay0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0001263HP:0001263Global developmental delay0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001263HP:0001263Global developmental delay0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies.
HP:0001263HP:0001263Global developmental delay0WNT1 CL E G H747112774OMIM:615220Osteogenesis imperfecta, type XV12
HP:0001263HP:0001263Global developmental delay0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0001263HP:0001263Global developmental delay0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0001263HP:0001263Global developmental delay0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0001263HP:0001263Global developmental delay0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28.149
HP:0001263HP:0001263Global developmental delay0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0001263HP:0001263Global developmental delay0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0001263HP:0001263Global developmental delay0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040282 - Frequent125
HP:0001263HP:0001263Global developmental delay0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040281 - Very frequent9
HP:0001263HP:0001263Global developmental delay0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0001263HP:0001263Global developmental delay0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0001263HP:0001263Global developmental delay0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001263HP:0001263Global developmental delay0YIPF5 CL E G H8155524877OMIM:619278MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001263HP:0001263Global developmental delay0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0001263HP:0001263Global developmental delay0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040281 - Very frequent14
HP:0001263HP:0001263Global developmental delay0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0001263HP:0001263Global developmental delay0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001263HP:0001263Global developmental delay0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0001263HP:0001263Global developmental delay0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040281 - Very frequent7
HP:0001263HP:0001263Global developmental delay0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.
HP:0001263HP:0001263Global developmental delay0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0001263HP:0001263Global developmental delay0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0001263HP:0001263Global developmental delay0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0001263HP:0001263Global developmental delay0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040282 - Frequent9
HP:0001263HP:0001263Global developmental delay0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001263HP:0001263Global developmental delay0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0001263HP:0001263Global developmental delay0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001263HP:0001263Global developmental delay0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001263HP:0001263Global developmental delay0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0001263HP:0001263Global developmental delay0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6.5
HP:0001263HP:0001263Global developmental delay0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 5.34
HP:0001263HP:0001263Global developmental delay0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001263HP:0001263Global developmental delay0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001263HP:0001263Global developmental delay0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0001263HP:0001263Global developmental delay0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0001263HP:0001263Global developmental delay0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001263HP:0001263Global developmental delay0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0001263HP:0001263Global developmental delay0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive60
HP:0001263HP:0001263Global developmental delay0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0001263HP:0001263Global developmental delay0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0001263HP:0001263Global developmental delay0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent49
HP:0001263HP:0001263Global developmental delay0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001263HP:0001263Global developmental delay0ZNF526 CL E G H11611529415OMIM:61987724
HP:0001263HP:0001263Global developmental delay0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001263HP:0001263Global developmental delay0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001263HP:0001263Global developmental delay0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0001263HP:0001263Global developmental delay0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0001263HP:0001263Global developmental delay0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001263HP:0001263Global developmental delay0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0001263HP:0001263Global developmental delay0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0001263HP:0011342Mild global developmental delay1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001263HP:0011342Mild global developmental delay1ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001263HP:0011344Severe global developmental delay1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0001263HP:0011342Mild global developmental delay1ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040282 - Frequent245
HP:0001263HP:0011342Mild global developmental delay1ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional58
HP:0001263HP:0011344Severe global developmental delay1ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001263HP:0011344Severe global developmental delay1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0001263HP:0011342Mild global developmental delay1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0001263HP:0011344Severe global developmental delay1ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001263HP:0011344Severe global developmental delay1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0001263HP:0011344Severe global developmental delay1ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0001263HP:0011344Severe global developmental delay1ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0001263HP:0012736Profound global developmental delay1ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0001263HP:0011342Mild global developmental delay1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0001263HP:0011343Moderate global developmental delay1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0001263HP:0011344Severe global developmental delay1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0001263HP:0011344Severe global developmental delay1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001263HP:0011344Severe global developmental delay1ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0001263HP:0011343Moderate global developmental delay1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040281 - Very frequent60
HP:0001263HP:0011344Severe global developmental delay1AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001263HP:0012736Profound global developmental delay1AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001263HP:0011342Mild global developmental delay1ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040283 - Occasional104
HP:0001263HP:0011342Mild global developmental delay1ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0001263HP:0011344Severe global developmental delay1ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0001263HP:0011344Severe global developmental delay1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001263HP:0011344Severe global developmental delay1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0001263HP:0011344Severe global developmental delay1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001263HP:0011342Mild global developmental delay1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001263HP:0011344Severe global developmental delay1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001263HP:0011344Severe global developmental delay1ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0001263HP:0011344Severe global developmental delay1ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0001263HP:0011344Severe global developmental delay1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001263HP:0012736Profound global developmental delay1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001263HP:0011344Severe global developmental delay1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001263HP:0012736Profound global developmental delay1ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0001263HP:0011344Severe global developmental delay1ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0001263HP:0011342Mild global developmental delay1ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040282 - Frequent48
HP:0001263HP:0011344Severe global developmental delay1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001263HP:0011344Severe global developmental delay1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0001263HP:0011342Mild global developmental delay1ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0001263HP:0011342Mild global developmental delay1ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0001263HP:0012736Profound global developmental delay1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040281 - Very frequent169
HP:0001263HP:0011342Mild global developmental delay1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001263HP:0011344Severe global developmental delay1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0001263HP:0011344Severe global developmental delay1C18ORF32 CL E G H49766131690OMIM:619985
HP:0001263HP:0012736Profound global developmental delay1CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0001263HP:0011344Severe global developmental delay1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040281 - Very frequent118
HP:0001263HP:0011344Severe global developmental delay1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001263HP:0011342Mild global developmental delay1CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0001263HP:0011342Mild global developmental delay1CDH2 CL E G H10001759OMIM:619957
HP:0001263HP:0011344Severe global developmental delay1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0001263HP:0011344Severe global developmental delay1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0001263HP:0011343Moderate global developmental delay1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0001263HP:0011342Mild global developmental delay1CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0001263HP:0011342Mild global developmental delay1CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0001263HP:0011342Mild global developmental delay1CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0001263HP:0011344Severe global developmental delay1CHKA CL E G H11191937OMIM:620023
HP:0001263HP:0011344Severe global developmental delay1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0001263HP:0011342Mild global developmental delay1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0001263HP:0011342Mild global developmental delay1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0001263HP:0012736Profound global developmental delay1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001263HP:0011344Severe global developmental delay1COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0001263HP:0011344Severe global developmental delay1COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0001263HP:0012736Profound global developmental delay1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0001263HP:0011344Severe global developmental delay1CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001263HP:0011342Mild global developmental delay1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0001263HP:0011344Severe global developmental delay1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0001263HP:0011342Mild global developmental delay1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0001263HP:0011344Severe global developmental delay1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0001263HP:0011344Severe global developmental delay1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0001263HP:0011344Severe global developmental delay1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0001263HP:0011344Severe global developmental delay1DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001263HP:0011342Mild global developmental delay1DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001263HP:0011344Severe global developmental delay1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0001263HP:0011344Severe global developmental delay1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0001263HP:0012736Profound global developmental delay1DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0001263HP:0011342Mild global developmental delay1DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0001263HP:0011344Severe global developmental delay1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001263HP:0011343Moderate global developmental delay1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001263HP:0011342Mild global developmental delay1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001263HP:0011344Severe global developmental delay1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001263HP:0011344Severe global developmental delay1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001263HP:0011344Severe global developmental delay1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001263HP:0012736Profound global developmental delay1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001263HP:0011344Severe global developmental delay1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0001263HP:0011344Severe global developmental delay1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0001263HP:0011344Severe global developmental delay1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001263HP:0011344Severe global developmental delay1ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0001263HP:0011344Severe global developmental delay1EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0001263HP:0011344Severe global developmental delay1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0001263HP:0011344Severe global developmental delay1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0001263HP:0011344Severe global developmental delay1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0001263HP:0011344Severe global developmental delay1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0001263HP:0011344Severe global developmental delay1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0001263HP:0011344Severe global developmental delay1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0001263HP:0011344Severe global developmental delay1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0001263HP:0011344Severe global developmental delay1EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0001263HP:0011344Severe global developmental delay1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001263HP:0011342Mild global developmental delay1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0001263HP:0012736Profound global developmental delay1FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0001263HP:0011344Severe global developmental delay1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0001263HP:0012736Profound global developmental delay1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001263HP:0012736Profound global developmental delay1FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0001263HP:0011344Severe global developmental delay1FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0001263HP:0011344Severe global developmental delay1FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0001263HP:0011344Severe global developmental delay1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0001263HP:0011344Severe global developmental delay1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0001263HP:0011342Mild global developmental delay1FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040283 - Occasional65
HP:0001263HP:0011344Severe global developmental delay1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0001263HP:0011342Mild global developmental delay1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0001263HP:0011344Severe global developmental delay1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0001263HP:0011344Severe global developmental delay1GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0001263HP:0011344Severe global developmental delay1GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0001263HP:0011344Severe global developmental delay1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0001263HP:0011344Severe global developmental delay1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0001263HP:0011344Severe global developmental delay1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0001263HP:0011344Severe global developmental delay1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0001263HP:0011342Mild global developmental delay1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001263HP:0011342Mild global developmental delay1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001263HP:0011344Severe global developmental delay1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0001263HP:0011344Severe global developmental delay1GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001263HP:0012736Profound global developmental delay1GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0001263HP:0011344Severe global developmental delay1GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0001263HP:0011342Mild global developmental delay1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001263HP:0011344Severe global developmental delay1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001263HP:0011344Severe global developmental delay1GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C18
HP:0001263HP:0011344Severe global developmental delay1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001263HP:0012736Profound global developmental delay1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040281 - Very frequent108
HP:0001263HP:0011344Severe global developmental delay1GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001263HP:0012736Profound global developmental delay1GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001263HP:0012736Profound global developmental delay1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040282 - Frequent434
HP:0001263HP:0011344Severe global developmental delay1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001263HP:0011344Severe global developmental delay1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001263HP:0011344Severe global developmental delay1GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0001263HP:0011344Severe global developmental delay1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001263HP:0012736Profound global developmental delay1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0001263HP:0012736Profound global developmental delay1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001263HP:0011344Severe global developmental delay1H4C5 CL E G H83674790OMIM:619950
HP:0001263HP:0011343Moderate global developmental delay1HAL CL E G H30344806ORPHA:2157HistidinemiaHP:0040284 - Very rare73
HP:0001263HP:0011344Severe global developmental delay1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0001263HP:0011343Moderate global developmental delay1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0001263HP:0011342Mild global developmental delay1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0001263HP:0011344Severe global developmental delay1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0001263HP:0011344Severe global developmental delay1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001263HP:0011343Moderate global developmental delay1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0001263HP:0011344Severe global developmental delay1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0001263HP:0011344Severe global developmental delay1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001263HP:0012736Profound global developmental delay1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0001263HP:0011344Severe global developmental delay1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0001263HP:0011344Severe global developmental delay1KCNC2 CL E G H37476234OMIM:619913
HP:0001263HP:0011344Severe global developmental delay1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0001263HP:0011342Mild global developmental delay1KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040282 - Frequent127
HP:0001263HP:0011344Severe global developmental delay1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0001263HP:0012736Profound global developmental delay1KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040282 - Frequent528
HP:0001263HP:0011343Moderate global developmental delay1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0001263HP:0011344Severe global developmental delay1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0001263HP:0011344Severe global developmental delay1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1KMT2B CL E G H975715840OMIM:61993411
HP:0001263HP:0011344Severe global developmental delay1LAMB1 CL E G H39126486ORPHA:352682Cobblestone lissencephaly without muscular or ocular involvementHP:0040282 - Frequent71
HP:0001263HP:0011344Severe global developmental delay1LAMB1 CL E G H39126486OMIM:615191Lissencephaly 5.71
HP:0001263HP:0011342Mild global developmental delay1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0001263HP:0011344Severe global developmental delay1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0001263HP:0011344Severe global developmental delay1LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0001263HP:0012736Profound global developmental delay1LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0001263HP:0012736Profound global developmental delay1LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0001263HP:0011342Mild global developmental delay1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0001263HP:0011342Mild global developmental delay1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0001263HP:0011342Mild global developmental delay1LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0001263HP:0011344Severe global developmental delay1LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0001263HP:0011344Severe global developmental delay1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001263HP:0011343Moderate global developmental delay1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001263HP:0011344Severe global developmental delay1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001263HP:0011342Mild global developmental delay1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001263HP:0011344Severe global developmental delay1MAPKAPK5 CL E G H85506889OMIM:619869
HP:0001263HP:0011342Mild global developmental delay1MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0001263HP:0011344Severe global developmental delay1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0001263HP:0011344Severe global developmental delay1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001263HP:0011344Severe global developmental delay1MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0001263HP:0011344Severe global developmental delay1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040281 - Very frequent43
HP:0001263HP:0011344Severe global developmental delay1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001263HP:0011343Moderate global developmental delay1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001263HP:0011344Severe global developmental delay1MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0001263HP:0012736Profound global developmental delay1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0001263HP:0011344Severe global developmental delay1MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001263HP:0011344Severe global developmental delay1MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0001263HP:0011344Severe global developmental delay1MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0001263HP:0011344Severe global developmental delay1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001263HP:0011342Mild global developmental delay1NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040282 - Frequent34
HP:0001263HP:0011344Severe global developmental delay1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0012736Profound global developmental delay1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0001263HP:0011344Severe global developmental delay1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0001263HP:0012736Profound global developmental delay1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001263HP:0011342Mild global developmental delay1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001263HP:0011344Severe global developmental delay1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001263HP:0012736Profound global developmental delay1NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 211
HP:0001263HP:0011344Severe global developmental delay1NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0001263HP:0011343Moderate global developmental delay1NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0001263HP:0011342Mild global developmental delay1NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0001263HP:0011344Severe global developmental delay1NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0001263HP:0011344Severe global developmental delay1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0001263HP:0011342Mild global developmental delay1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001263HP:0011342Mild global developmental delay1NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0001263HP:0011344Severe global developmental delay1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0001263HP:0011344Severe global developmental delay1NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0001263HP:0011342Mild global developmental delay1NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0001263HP:0011342Mild global developmental delay1OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0001263HP:0011344Severe global developmental delay1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0001263HP:0012736Profound global developmental delay1OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0001263HP:0011344Severe global developmental delay1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0001263HP:0012736Profound global developmental delay1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 75.14
HP:0001263HP:0011342Mild global developmental delay1PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0001263HP:0011342Mild global developmental delay1PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiencyHP:0040282 - Frequent52
HP:0001263HP:0011342Mild global developmental delay1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001263HP:0011344Severe global developmental delay1PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0001263HP:0012736Profound global developmental delay1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0001263HP:0011344Severe global developmental delay1PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0001263HP:0011344Severe global developmental delay1PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0001263HP:0012736Profound global developmental delay1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0001263HP:0011344Severe global developmental delay1PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0001263HP:0012736Profound global developmental delay1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0001263HP:0011344Severe global developmental delay1PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0001263HP:0012736Profound global developmental delay1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0001263HP:0011344Severe global developmental delay1PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0001263HP:0012736Profound global developmental delay1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0001263HP:0011344Severe global developmental delay1PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0001263HP:0012736Profound global developmental delay1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0001263HP:0011344Severe global developmental delay1PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0001263HP:0011344Severe global developmental delay1PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0001263HP:0012736Profound global developmental delay1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0001263HP:0011344Severe global developmental delay1PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0001263HP:0012736Profound global developmental delay1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0001263HP:0011344Severe global developmental delay1PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0001263HP:0012736Profound global developmental delay1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0001263HP:0011344Severe global developmental delay1PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0001263HP:0012736Profound global developmental delay1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0001263HP:0011344Severe global developmental delay1PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0001263HP:0011344Severe global developmental delay1PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0001263HP:0012736Profound global developmental delay1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0001263HP:0011344Severe global developmental delay1PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0001263HP:0012736Profound global developmental delay1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0001263HP:0011344Severe global developmental delay1PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0001263HP:0012736Profound global developmental delay1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0001263HP:0011343Moderate global developmental delay1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0001263HP:0011344Severe global developmental delay1PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0001263HP:0011344Severe global developmental delay1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0001263HP:0011343Moderate global developmental delay1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0001263HP:0011342Mild global developmental delay1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001263HP:0011344Severe global developmental delay1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040281 - Very frequent7
HP:0001263HP:0011344Severe global developmental delay1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0001263HP:0011344Severe global developmental delay1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040281 - Very frequent37
HP:0001263HP:0011344Severe global developmental delay1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001263HP:0011344Severe global developmental delay1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001263HP:0012736Profound global developmental delay1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001263HP:0011344Severe global developmental delay1PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0001263HP:0012736Profound global developmental delay1PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia.3
HP:0001263HP:0011342Mild global developmental delay1PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0001263HP:0011342Mild global developmental delay1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0001263HP:0011343Moderate global developmental delay1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0001263HP:0011342Mild global developmental delay1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001263HP:0011344Severe global developmental delay1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001263HP:0011344Severe global developmental delay1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001263HP:0011344Severe global developmental delay1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0001263HP:0011344Severe global developmental delay1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001263HP:0011344Severe global developmental delay1PRIM1 CL E G H55579369OMIM:620005
HP:0001263HP:0011342Mild global developmental delay1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0001263HP:0011344Severe global developmental delay1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0001263HP:0011344Severe global developmental delay1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001263HP:0012736Profound global developmental delay1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0001263HP:0012736Profound global developmental delay1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001263HP:0012736Profound global developmental delay1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040281 - Very frequent27
HP:0001263HP:0011343Moderate global developmental delay1PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0001263HP:0011344Severe global developmental delay1PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0001263HP:0012736Profound global developmental delay1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0001263HP:0011344Severe global developmental delay1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040282 - Frequent53
HP:0001263HP:0011344Severe global developmental delay1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0001263HP:0011344Severe global developmental delay1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001263HP:0011344Severe global developmental delay1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0001263HP:0011344Severe global developmental delay1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0001263HP:0012736Profound global developmental delay1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0001263HP:0011342Mild global developmental delay1RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0001263HP:0011342Mild global developmental delay1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001263HP:0011344Severe global developmental delay1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001263HP:0012736Profound global developmental delay1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0001263HP:0011344Severe global developmental delay1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0001263HP:0011344Severe global developmental delay1RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0001263HP:0011344Severe global developmental delay1RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0001263HP:0011344Severe global developmental delay1RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0001263HP:0011342Mild global developmental delay1RNF168 CL E G H16591826661OMIM:611943Riddle syndrome7
HP:0001263HP:0011344Severe global developmental delay1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001263HP:0011342Mild global developmental delay1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0001263HP:0011344Severe global developmental delay1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0001263HP:0011342Mild global developmental delay1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0001263HP:0011343Moderate global developmental delay1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001263HP:0011344Severe global developmental delay1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001263HP:0011344Severe global developmental delay1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0001263HP:0011344Severe global developmental delay1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0001263HP:0011343Moderate global developmental delay1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0001263HP:0011343Moderate global developmental delay1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0001263HP:0011343Moderate global developmental delay1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0001263HP:0011343Moderate global developmental delay1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0001263HP:0011344Severe global developmental delay1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0001263HP:0011344Severe global developmental delay1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0001263HP:0012736Profound global developmental delay1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040281 - Very frequent143
HP:0001263HP:0011342Mild global developmental delay1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0001263HP:0011342Mild global developmental delay1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0001263HP:0012736Profound global developmental delay1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0001263HP:0011344Severe global developmental delay1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0001263HP:0011344Severe global developmental delay1SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0001263HP:0011344Severe global developmental delay1SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0001263HP:0011344Severe global developmental delay1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0001263HP:0011344Severe global developmental delay1SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration48
HP:0001263HP:0012736Profound global developmental delay1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040281 - Very frequent11
HP:0001263HP:0011344Severe global developmental delay1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0001263HP:0012736Profound global developmental delay1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0001263HP:0011344Severe global developmental delay1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0001263HP:0011344Severe global developmental delay1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001263HP:0011344Severe global developmental delay1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0001263HP:0011342Mild global developmental delay1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0001263HP:0011343Moderate global developmental delay1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001263HP:0011342Mild global developmental delay1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001263HP:0011342Mild global developmental delay1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0001263HP:0011344Severe global developmental delay1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001263HP:0011344Severe global developmental delay1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0001263HP:0011344Severe global developmental delay1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0001263HP:0011344Severe global developmental delay1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040281 - Very frequent1
HP:0001263HP:0011344Severe global developmental delay1TAF8 CL E G H12968517300OMIM:619972
HP:0001263HP:0011342Mild global developmental delay1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001263HP:0011344Severe global developmental delay1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001263HP:0011343Moderate global developmental delay1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001263HP:0011344Severe global developmental delay1TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0001263HP:0012736Profound global developmental delay1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0001263HP:0011344Severe global developmental delay1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0001263HP:0011344Severe global developmental delay1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0001263HP:0011344Severe global developmental delay1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001263HP:0011342Mild global developmental delay1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040281 - Very frequent55
HP:0001263HP:0011343Moderate global developmental delay1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040281 - Very frequent55
HP:0001263HP:0011342Mild global developmental delay1TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0001263HP:0011344Severe global developmental delay1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040281 - Very frequent12
HP:0001263HP:0012736Profound global developmental delay1TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome.12
HP:0001263HP:0011343Moderate global developmental delay1TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0001263HP:0011343Moderate global developmental delay1TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040281 - Very frequent63
HP:0001263HP:0011342Mild global developmental delay1TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001263HP:0011343Moderate global developmental delay1TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040281 - Very frequent
HP:0001263HP:0011342Mild global developmental delay1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001263HP:0011342Mild global developmental delay1TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0001263HP:0011344Severe global developmental delay1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0001263HP:0011344Severe global developmental delay1TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0001263HP:0011344Severe global developmental delay1TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0001263HP:0011344Severe global developmental delay1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0001263HP:0011344Severe global developmental delay1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011342Mild global developmental delay1TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040281 - Very frequent
HP:0001263HP:0011344Severe global developmental delay1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001263HP:0011344Severe global developmental delay1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0001263HP:0011344Severe global developmental delay1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0001263HP:0011344Severe global developmental delay1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0001263HP:0011344Severe global developmental delay1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0001263HP:0011344Severe global developmental delay1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0001263HP:0011344Severe global developmental delay1TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0001263HP:0011342Mild global developmental delay1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001263HP:0011344Severe global developmental delay1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001263HP:0011344Severe global developmental delay1TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040281 - Very frequent21
HP:0001263HP:0011344Severe global developmental delay1TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0001263HP:0011344Severe global developmental delay1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0001263HP:0011344Severe global developmental delay1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0001263HP:0011344Severe global developmental delay1TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 29.1
HP:0001263HP:0011344Severe global developmental delay1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001263HP:0011344Severe global developmental delay1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001263HP:0011344Severe global developmental delay1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0001263HP:0012736Profound global developmental delay1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001263HP:0011344Severe global developmental delay1VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0001263HP:0011344Severe global developmental delay1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001263HP:0011344Severe global developmental delay1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001263HP:0011344Severe global developmental delay1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001263HP:0011344Severe global developmental delay1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001263HP:0011344Severe global developmental delay1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001263HP:0012736Profound global developmental delay1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0001263HP:0011342Mild global developmental delay1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0001263HP:0011344Severe global developmental delay1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0001263HP:0012736Profound global developmental delay1WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0001263HP:0011344Severe global developmental delay1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001263HP:0011344Severe global developmental delay1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0001263HP:0011344Severe global developmental delay1ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0001263HP:0011342Mild global developmental delay1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0001263HP:0011342Mild global developmental delay1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001263HP:0012736Profound global developmental delay1ZNF526 CL E G H11611529415OMIM:61987724
HP:0001263HP:0011344Severe global developmental delay1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (1839) :AAAS AARS1 AASS ABAT ABCA2 ABCB7 ABCC6 ABCC8 ABCD4 ABHD16A ABHD5 ABL1 ACAD8 ACADM ACADS ACADSB ACAT2 ACD ACO2 ACOX1 ACOX2 ACP5 ACSF3 ACTA1 ACTB ACTG1 ACTL6B ACY1 ADAMTSL2 ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADGRL1 ADK ADNP ADPRS ADSL AEBP1 AFF3 AFF4 AGPAT2 AGTPBP1 AHCY AHDC1 AHI1 AIFM1 AIMP1 AIMP2 AIPL1 AKT1 AKT3 ALB ALDH18A1 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALS2 ALX4 AMER1 AMPD2 ANAPC1 ANAPC7 ANK1 ANK3 ANKLE2 ANKRD11 ANKRD17 AP1B1 AP1G1 AP1S1 AP1S2 AP2M1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APP AQP2 ARCN1 ARF1 ARFGEF1 ARFGEF2 ARG1 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARNT2 ARSL ARV1 ARVCF ARX ASAH1 ASCC1 ASH1L ASL ASNS ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATN1 ATP11A ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP5F1D ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX ATXN7 AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BBS1 BBS2 BBS9 BCAP31 BCAS3 BCL11A BCL11B BCOR BCORL1 BCR BCS1L BICRA BLTP1 BMP2 BMP4 BMPER BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRF1 BRIP1 BRPF1 BSCL2 BTD BUB1 BUB1B BUB3 C12ORF4 C12ORF57 C18ORF32 C19ORF12 C2CD3 C2ORF69 CA2 CA5A CACNA1A CACNA1B CACNA1C CACNA1D CACNA1G CACNA2D1 CACNA2D2 CAD CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CAPN15 CARS1 CARS2 CASK CASZ1 CAV1 CAVIN1 CBL CBS CBY1 CC2D1A CC2D2A CCDC115 CCDC174 CCDC22 CCDC28B CCDC32 CCDC47 CCDC88A CCND2 CCNK CD109 CD40LG CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDH23 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDKL5 CDKN1C CDON CDT1 CELF2 CENPE CENPJ CENPT CEP104 CEP120 CEP135 CEP152 CEP164 CEP290 CEP41 CEP57 CEP63 CEP85L CERS1 CERT1 CFAP43 CHAMP1 CHD1 CHD2 CHD3 CHD4 CHD7 CHD8 CHKA CHMP1A CHN1 CHRNA7 CHST14 CHSY1 CIB2 CIC CIT CKAP2L CLCN3 CLCN4 CLCN6 CLIC2 CLN8 CLP1 CLPB CLTC CLTCL1 CLTRN CNKSR2 CNNM2 CNOT1 CNOT3 CNPY3 CNTNAP2 COA3 COA8 COASY COG1 COG2 COG4 COG6 COG7 COG8 COL18A1 COL1A2 COL27A1 COL3A1 COL4A1 COL4A2 COLEC10 COLEC11 COLGALT1 COLQ COMT COPB2 COQ2 COQ5 COQ7 COQ8A COQ9 CORO1A COX1 COX15 COX2 COX3 COX4I2 COX7B COX8A CPLANE1 CPLX1 CPS1 CPSF3 CRB1 CRBN CREBBP CRIPT CRKL CRPPA CRX CSF1R CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNA2 CTNNB1 CTNND2 CTNS CTSK CUX1 CUX2 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP2U1 D2HGDH DAG1 DALRD3 DBR1 DCC DCHS1 DCPS DDC DDHD2 DDOST DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DHCR24 DHCR7 DHDDS DHFR DHPS DHTKD1 DHX16 DHX30 DHX37 DICER1 DIP2B DIS3L2 DKC1 DLAT DLD DLG3 DLK1 DLL1 DMD DMXL2 DNA2 DNAJC12 DNAJC21 DNM1 DNM1L DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOHH DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DST DTYMK DVL1 DVL3 DYM DYNC1H1 DYNC1I2 DYRK1A EARS2 EBF3 EBP ECHS1 EDEM3 EDN1 EDNRB EED EEF1A2 EFL1 EFNB1 EFTUD2 EGF EHMT1 EIF2AK2 EIF2AK3 EIF2S3 EIF3F EIF4A3 ELAC2 ELN ELOVL4 ELP2 EMC1 EMC10 EMG1 EML1 ENPP1 EP300 EPB41L1 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 ESPN ETHE1 EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EXTL3 EYA1 EZH2 FAM111A FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FASTKD2 FAT4 FBLN5 FBXL3 FBXL4 FBXO11 FBXO28 FBXW7 FCSK FDFT1 FDXR FGD1 FGF10 FGF12 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FITM2 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLVCR2 FMN2 FMR1 FNIP1 FOS FOXA2 FOXE1 FOXF1 FOXG1 FOXP1 FOXP3 FOXRED1 FRA16E FRMD4A FRMD5 FRMPD4 FRRS1L FTCD FTO FTSJ1 FUCA1 FUS FUT8 FUZ FZD2 FZD4 FZR1 G6PC3 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GALNT2 GALT GAMT GATA4 GATA6 GATAD2B GATM GBA1 GCDH GCH1 GCK GCLC GDF6 GDI1 GEMIN4 GEMIN5 GFAP GFER GFM2 GJA1 GJA5 GJA8 GJC2 GK GLB1 GLI2 GLI3 GLIS3 GLS GLUD1 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNAI1 GNAI3 GNAO1 GNB1 GNB2 GNB5 GNE GNPTAB GNS GON7 GORAB GP1BA GP1BB GPAA1 GPC3 GPC4 GPHN GPR161 GPR88 GPT2 GRB10 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GSX2 GTF2E2 GTF2H5 GTPBP2 GTPBP3 GUCY2D GUF1 GYS2 H1-4 H19-ICR H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HAAO HACE1 HADHA HADHB HAL HAX1 HCCS HCN1 HDAC4 HDAC8 HECW2 HELLS HEPHL1 HERC1 HERC2 HESX1 HGSNAT HIBCH HIKESHI HIRA HIVEP2 HK1 HLCS HMGA2 HMGB3 HMGCL HNF1B HNMT HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HPRT1 HPS6 HRAS HS2ST1 HS6ST2 HSD17B10 HSD17B4 HSD3B2 HSPA9 HSPD1 HSPG2 HTT HUWE1 HYCC1 HYLS1 IARS1 IARS2 IDH1 IDH2 IDS IDUA IER3IP1 IFIH1 IFT140 IFT172 IFT74 IGF1R IGF2 IKBKG IMPDH1 INPP5E INPP5K INS INSR INTS1 INTS8 INVS IPO8 IPW IQCB1 IQSEC1 IQSEC2 IREB2 IRF2BPL IRX5 ISCA1 ITCH ITGA2 ITGA2B ITGB3 ITPA ITPR1 IVD JAG1 JAM3 JMJD1C KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNC2 KCNC3 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ6 KCNK4 KCNK9 KCNMA1 KCNN2 KCNN3 KCNQ2 KCNQ5 KCNT2 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1C KIF2A KIF5C KIF7 KIFBP KLHL15 KLLN KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KRT14 KRT5 KY KYNU LAGE3 LAMA1 LAMB1 LAMB2 LAMC3 LAMP2 LARGE1 LARP7 LARS1 LAS1L LBR LCA5 LEMD3 LETM1 LGI3 LHX1 LHX4 LIAS LIG4 LINGO1 LINS1 LIPA LIPT1 LIPT2 LMAN2L LMBRD1 LMBRD2 LMNA LMNB1 LMNB2 LNPK LONP1 LRAT LRP2 LRP5 LRPPRC LRRC32 LRRK1 LSM11 LTBP4 LTC4S LUZP1 LYRM7 LZTFL1 LZTR1 MACF1 MAD2L2 MADD MAF MAFB MAG MAGEL2 MAGT1 MAN1B1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MARS2 MAST1 MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCM4 MCM7 MCOLN1 MCPH1 MCTP2 MDH1 MDH2 MECP2 MED12 MED13 MED13L MED17 MED25 MED27 MEG3 MEGF8 MEIS2 MESD METTL23 METTL5 MFF MFSD2A MFSD8 MGAT2 MGP MICOS13 MICU1 MID1 MID2 MINPP1 MIPEP MKKS MKRN3 MKRN3-AS1 MKS1 MLYCD MMAA MMAB MMACHC MMADHC MMP23B MMUT MN1 MNX1 MOCS2 MOGS MORC2 MPC1 MPDU1 MPLKIP MPV17 MRAS MRM2 MRPL12 MRPL3 MRPS14 MRPS2 MRPS22 MRPS25 MRPS34 MSL3 MSMO1 MTFMT MTHFR MTHFS MTO1 MTOR MTR MTRFR MTRR MTSS2 MVK MYMK MYO1H MYO5A MYO5B MYO7A MYSM1 MYT1L NAA10 NAA15 NAA20 NACC1 NADK2 NAGA NAGS NALCN NAPB NARS1 NARS2 NAT8L NAXD NAXE NBEA NCAPD3 NCAPG2 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDN NDP NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEFL NEK1 NELFA NEMF NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFE2L2 NFIA NFIX NFKB2 NFU1 NGLY1 NHLRC2 NHP2 NIN NIPA1 NIPA2 NKAP NKX2-1 NKX2-5 NKX6-2 NLGN1 NLRP3 NMNAT1 NONO NOP10 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPM1 NR2F1 NR4A2 NRAS NRCAM NRROS NSD1 NSD2 NSDHL NSMCE3 NSRP1 NSUN2 NSUN3 NT5C2 NTNG1 NTNG2 NTRK1 NTRK2 NUBPL NUDT2 NUP107 NUP133 NUP214 NUP85 NUS1 NXN OCA2 OCLN OCRL ODC1 OFD1 OGDH OGDHL OGT OPA1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTC OTUD5 OTUD6B OTX2 P3H1 P4HB P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK2 PAK3 PALB2 PAM16 PANK2 PARN PARS2 PAX1 PAX6 PAX8 PBX1 PC PCCA PCCB PCDH12 PCDH15 PCDH19 PCGF2 PCK1 PCLO PCNA PCNT PCYT1A PDCD6IP PDE2A PDE4D PDE6D PDGFB PDGFRB PDHA1 PDHB PDHX PDP1 PDPN PDX1 PDZD8 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PHACTR1 PHC1 PHF21A PHGDH PHIP PHKA2 PHKB PHKG2 PI4KA PIBF1 PIDD1 PIEZO1 PIEZO2 PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PISD PITRM1 PLA2G6 PLAA PLAG1 PLCB3 PLCB4 PLCH1 PLEC PLEKHG2 PLK4 PLOD3 PLP1 PLPBP PLXNA1 PMM2 PMP22 PMPCA PMPCB PNKP PNP PNPO POC1A POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 POU3F3 POU3F4 POU4F1 PPARG PPFIBP1 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRDM13 PRDM16 PRDX1 PREPL PRF1 PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRMT7 PROC PRODH PROKR2 PROP1 PRORP PRPS1 PRR12 PRUNE1 PSAP PSAT1 PSMB1 PSMC3 PSMD12 PSPH PTCH1 PTDSS1 PTEN PTPN11 PTPN23 PTRH2 PTS PUF60 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 QDPR RAB11B RAB18 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RALGAPA1 RARS1 RARS2 RBBP8 RBL2 RBM10 RBM8A RD3 RDH11 RDH12 REEP1 RELN RERE RET RFT1 RFWD3 RHOBTB2 RIC1 RIMS2 RLIM RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF168 RNF2 RNU4ATAC RNU7-1 ROBO1 ROBO3 ROGDI ROR2 RORA RORB RPE65 RPGRIP1 RPGRIP1L RPIA RPL10 RPL35A RPS28 RPS6KA3 RRAS2 RREB1 RSRC1 RTEL1 RTL1 RTTN RUBCN RUSC2 RXYLT1 SALL1 SALL4 SAMD9 SAMHD1 SARDH SARS1 SASS6 SATB1 SATB2 SBDS SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCO2 SCUBE3 SCYL1 SCYL2 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SEC24C SEC24D SELENON SEMA3E SEMA5A SEMA6B SEPSECS SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B2 SF3B4 SFTPC SGPL1 SGSH SH2B1 SHANK3 SHH SHOC2 SHQ1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIX1 SIX3 SIX6 SKI SKIC2 SKIC3 SLC10A7 SLC12A1 SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC19A2 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A26 SLC25A42 SLC25A46 SLC26A4 SLC2A1 SLC2A10 SLC2A2 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC37A4 SLC38A3 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC5A6 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC9A6 SLC9A7 SLX4 SMAD2 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMO SMPD1 SMPD4 SMS SNAP25 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX14 SOBP SON SOS2 SOX10 SOX18 SOX2 SOX3 SOX5 SOX6 SOX9 SPART SPATA5 SPATA5L1 SPATA7 SPECC1L SPEN SPG11 SPG21 SPINK5 SPOP SPR SPRED2 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SRD5A3 SRP54 SRPX2 SSR4 ST3GAL3 ST3GAL5 STAG1 STAG2 STAMBP STAT2 STAT3 STEEP1 STIL STRADA STS STT3A STT3B STUB1 STX11 STX1B STX3 STXBP1 SUCLA2 SUCLG1 SUFU SUGCT SUMF1 SUOX SUPT16H SURF1 SUZ12 SYNGAP1 SYNJ1 SYT1 SYT14 SZT2 TACO1 TAF1 TAF13 TAF2 TAF6 TAF8 TAFAZZIN TALDO1 TANGO2 TAOK1 TARS1 TARS2 TASP1 TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX2 TBX4 TCF12 TCF20 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TELO2 TENM3 TERC TERT TET2 TET3 TFAP2B TFE3 TGDS TGFB1 TGFBR1 TGFBR2 THOC6 THUMPD1 TIAM1 TIMM50 TIMMDC1 TINF2 TKFC TKT TLK2 TM4SF20 TMEM106B TMEM107 TMEM126B TMEM138 TMEM165 TMEM199 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM38B TMEM53 TMEM67 TMEM70 TMEM94 TMTC3 TMX2 TNFRSF11A TNPO2 TNR TNRC6B TOE1 TOGARAM1 TONSL TOP3A TOPORS TOR1A TP53 TP53RK TPI1 TPK1 TPP2 TPRKB TRAF3IP1 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREX1 TRIM8 TRIO TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHR TSPAN12 TTC19 TTC26 TTC8 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4B TUBG1 TUBGCP4 TUBGCP6 TULP1 TUSC3 TWIST1 TWIST2 TWNK TXN2 TYMS UBA5 UBE2T UBE3A UBE3B UBE4B UBR7 UBTF UFD1 UFSP2 UGDH UGP2 UMPS UNC45A UNC80 UPB1 UQCC2 UQCC3 UQCRC2 UQCRQ USB1 USF3 USH1C USH1G USP45 USP7 USP9X VAC14 VAMP2 VARS1 VARS2 VAX1 VIPAS39 VLDLR VPS11 VPS13B VPS33A VPS33B VPS35L VPS37A VPS41 VPS45 VPS4A VPS50 VPS51 VPS53 VRK1 WAC WARS2 WASHC4 WASHC5 WBP11 WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WIPI2 WNT1 WNT5A WRAP53 WWOX XRCC2 XRCC4 XYLT1 YIF1B YIPF5 YME1L1 YWHAE YWHAG YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZBTB7A ZC4H2 ZFR ZIC1 ZIC2 ZMIZ1 ZMYM2 ZMYND11 ZNF142 ZNF148 ZNF292 ZNF335 ZNF407 ZNF408 ZNF423 ZNF462 ZNF526 ZNF699 ZNFX1 ZNHIT3 ZPR1 ZSWIM6

Diseases (2126) :OMIM:231550 OMIM:616339 ORPHA:442835 OMIM:619691 ORPHA:2203 OMIM:613163 OMIM:618808 ORPHA:2802 ORPHA:51608 ORPHA:79134 ORPHA:99885 OMIM:614857 OMIM:619735 ORPHA:98907 OMIM:617602 ORPHA:79159 OMIM:201450 OMIM:201470 OMIM:610006 OMIM:614055 OMIM:616553 ORPHA:3322 OMIM:614559 ORPHA:2971 OMIM:264470 OMIM:617308 ORPHA:1855 OMIM:607944 ORPHA:289504 OMIM:614265 ORPHA:97244 ORPHA:97240 ORPHA:2995 OMIM:243310 ORPHA:79107 OMIM:607371 OMIM:618468 OMIM:618470 OMIM:609924 ORPHA:137754 OMIM:231050 ORPHA:51 OMIM:615010 OMIM:618862 ORPHA:363528 OMIM:619651 OMIM:617008 ORPHA:101070 ORPHA:98889 OMIM:606854 OMIM:620065 OMIM:614300 ORPHA:404448 OMIM:615873 OMIM:618170 OMIM:103050 ORPHA:46 ORPHA:536532 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:528 OMIM:618276 ORPHA:2254 OMIM:613752 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:475 ORPHA:220493 OMIM:300816 ORPHA:238329 OMIM:260600 OMIM:618006 ORPHA:65 ORPHA:201 ORPHA:99802 OMIM:616000 ORPHA:86816 ORPHA:35664 ORPHA:90348 ORPHA:447760 OMIM:616603 OMIM:219150 OMIM:616586 ORPHA:79101 OMIM:271980 ORPHA:22 OMIM:614105 OMIM:266100 ORPHA:79327 OMIM:608540 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 OMIM:300884 OMIM:619031 ORPHA:79326 OMIM:607906 ORPHA:79321 OMIM:601110 OMIM:603147 ORPHA:79325 ORPHA:79328 OMIM:608776 OMIM:618504 OMIM:203800 OMIM:205100 ORPHA:300605 OMIM:613451 ORPHA:52022 ORPHA:2780 OMIM:615809 ORPHA:221008 OMIM:618625 OMIM:619699 ORPHA:251066 OMIM:615493 ORPHA:2512 OMIM:616681 OMIM:148050 ORPHA:2332 OMIM:619504 OMIM:242150 OMIM:619467 OMIM:619548 OMIM:609313 ORPHA:85335 OMIM:304340 ORPHA:85329 ORPHA:1942 OMIM:608233 OMIM:617276 OMIM:617050 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:613647 OMIM:618677 ORPHA:821 OMIM:617169 ORPHA:324703 ORPHA:223 OMIM:617164 OMIM:618185 OMIM:619964 OMIM:608097 ORPHA:90 OMIM:207800 OMIM:100300 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:618161 OMIM:209900 OMIM:600151 OMIM:617622 ORPHA:3157 OMIM:615926 ORPHA:79345 OMIM:302950 OMIM:617020 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 OMIM:300215 ORPHA:452 ORPHA:333 OMIM:616867 OMIM:617796 OMIM:207900 OMIM:615574 OMIM:271900 ORPHA:314918 ORPHA:314911 OMIM:215700 OMIM:605039 OMIM:617190 ORPHA:352577 OMIM:615485 OMIM:618011 OMIM:617183 ORPHA:496790 OMIM:618810 ORPHA:94122 OMIM:601238 OMIM:617584 OMIM:618494 OMIM:619851 OMIM:618314 ORPHA:564178 OMIM:619605 OMIM:614820 OMIM:619606 OMIM:619910 OMIM:618120 ORPHA:255210 ORPHA:644 OMIM:551500 OMIM:300972 OMIM:300423 OMIM:619970 OMIM:619971 ORPHA:357074 ORPHA:2834 OMIM:618012 ORPHA:79500 OMIM:616455 ORPHA:198 OMIM:604273 ORPHA:808 ORPHA:847 OMIM:301040 ORPHA:94147 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 OMIM:615181 ORPHA:899 OMIM:615349 ORPHA:709 OMIM:261540 OMIM:607091 ORPHA:75496 OMIM:130070 OMIM:615287 OMIM:617120 OMIM:619762 OMIM:615981 OMIM:615986 OMIM:300475 OMIM:619641 OMIM:617101 OMIM:617237 OMIM:618092 ORPHA:2712 OMIM:301029 ORPHA:261330 OMIM:124000 OMIM:619325 OMIM:617822 ORPHA:261295 ORPHA:139471 OMIM:607932 OMIM:608022 OMIM:614299 OMIM:617755 ORPHA:1340 ORPHA:54595 ORPHA:500 OMIM:618056 OMIM:614498 ORPHA:84 OMIM:617883 ORPHA:280679 ORPHA:444072 OMIM:616202 OMIM:609054 OMIM:617333 ORPHA:79241 OMIM:253260 ORPHA:1052 OMIM:257300 OMIM:618221 OMIM:218340 ORPHA:1777 OMIM:619985 OMIM:614298 ORPHA:434179 OMIM:615948 OMIM:619423 ORPHA:2785 OMIM:615751 OMIM:617106 OMIM:618497 OMIM:620029 OMIM:601005 OMIM:615474 ORPHA:369929 OMIM:618087 OMIM:618501 OMIM:616457 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:314647 OMIM:619318 ORPHA:33364 ORPHA:477774 OMIM:616672 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 OMIM:236200 OMIM:608443 OMIM:619111 OMIM:612285 ORPHA:2318 OMIM:616828 OMIM:616816 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:618268 OMIM:617507 OMIM:615938 OMIM:618147 ORPHA:853 OMIM:308230 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:2268 OMIM:616910 OMIM:211380 OMIM:619736 OMIM:619957 OMIM:618929 ORPHA:231169 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:616342 OMIM:604804 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:614732 ORPHA:397590 OMIM:614226 ORPHA:95496 OMIM:616051 OMIM:608393 OMIM:618702 OMIM:619988 OMIM:616781 OMIM:617761 OMIM:614845 ORPHA:3156 OMIM:615991 OMIM:610188 OMIM:614464 OMIM:618873 OMIM:616230 OMIM:616351 OMIM:236690 OMIM:616579 ORPHA:529965 OMIM:617682 OMIM:615369 OMIM:618205 OMIM:617159 ORPHA:138 OMIM:214800 OMIM:615032 OMIM:620023 OMIM:614961 ORPHA:233 ORPHA:199318 OMIM:601776 ORPHA:363417 OMIM:605282 OMIM:617600 OMIM:617090 ORPHA:3255 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:619173 OMIM:300886 ORPHA:324410 ORPHA:1947 ORPHA:411493 OMIM:615803 OMIM:616271 OMIM:619835 OMIM:619813 OMIM:617854 ORPHA:453510 ORPHA:2116 OMIM:301008 OMIM:616418 OMIM:618500 OMIM:619033 OMIM:618672 OMIM:617929 ORPHA:163681 OMIM:610042 OMIM:619058 ORPHA:436271 OMIM:615643 ORPHA:263508 OMIM:611209 OMIM:617395 ORPHA:263501 OMIM:618150 OMIM:614576 OMIM:608779 ORPHA:95428 OMIM:611182 OMIM:267750 ORPHA:230851 OMIM:615155 ORPHA:286 OMIM:614483 OMIM:248340 OMIM:265050 OMIM:618360 ORPHA:98915 OMIM:619884 OMIM:617800 OMIM:607426 OMIM:619028 OMIM:616733 OMIM:612016 OMIM:614654 OMIM:615401 ORPHA:550 ORPHA:255241 OMIM:612714 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619059 OMIM:614615 ORPHA:2754 OMIM:277170 OMIM:617976 ORPHA:352582 ORPHA:280 OMIM:194190 OMIM:237300 OMIM:619876 OMIM:607417 OMIM:180849 OMIM:615789 OMIM:618476 OMIM:617062 OMIM:615636 ORPHA:397715 ORPHA:1775 OMIM:615502 OMIM:604168 ORPHA:48431 OMIM:618174 ORPHA:891 OMIM:615075 ORPHA:281 OMIM:219800 ORPHA:763 OMIM:618330 OMIM:618141 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 ORPHA:621 OMIM:250800 ORPHA:320411 OMIM:600721 ORPHA:370997 OMIM:616538 OMIM:613818 OMIM:618910 OMIM:619441 OMIM:617542 ORPHA:314679 OMIM:616459 OMIM:608643 ORPHA:320380 OMIM:615033 OMIM:614507 OMIM:271665 OMIM:613398 ORPHA:457260 OMIM:174300 OMIM:618653 OMIM:617171 ORPHA:468620 OMIM:615828 ORPHA:819 OMIM:618404 OMIM:617281 OMIM:602398 ORPHA:818 OMIM:270400 OMIM:617836 OMIM:613839 OMIM:618480 OMIM:204750 OMIM:618733 OMIM:617804 OMIM:618731 OMIM:618272 OMIM:136630 ORPHA:2849 OMIM:267000 OMIM:305000 OMIM:245348 ORPHA:79244 OMIM:246900 OMIM:300850 ORPHA:254534 ORPHA:254528 ORPHA:96334 OMIM:618709 ORPHA:98896 OMIM:618663 OMIM:615807 OMIM:617384 OMIM:617052 OMIM:260400 OMIM:616346 ORPHA:98673 ORPHA:330050 OMIM:614388 OMIM:618724 OMIM:615879 OMIM:618292 OMIM:614219 OMIM:615859 OMIM:620066 ORPHA:91131 OMIM:617604 OMIM:608093 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:608799 OMIM:615042 ORPHA:329178 ORPHA:293948 ORPHA:1675 OMIM:619435 OMIM:614653 OMIM:619847 ORPHA:3107 OMIM:180700 OMIM:223800 OMIM:614228 OMIM:614563 OMIM:158600 OMIM:618492 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:614924 OMIM:617330 ORPHA:401973 OMIM:300960 OMIM:616277 OMIM:619493 ORPHA:137888 OMIM:277580 OMIM:617561 ORPHA:3447 OMIM:616409 OMIM:616393 OMIM:617941 OMIM:304110 OMIM:610536 OMIM:611718 ORPHA:96147 ORPHA:261652 OMIM:619687 OMIM:226980 ORPHA:1667 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:615440 OMIM:614457 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 ORPHA:1270 OMIM:600348 OMIM:613684 OMIM:614257 OMIM:242840 ORPHA:1493 OMIM:617951 OMIM:610758 ORPHA:1466 OMIM:610756 ORPHA:220295 OMIM:616570 OMIM:278780 OMIM:214150 OMIM:278800 OMIM:216400 ORPHA:209951 ORPHA:75857 OMIM:615544 ORPHA:3103 OMIM:602473 OMIM:619306 OMIM:619072 OMIM:619076 OMIM:619304 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 OMIM:616682 ORPHA:466926 ORPHA:508533 OMIM:113650 ORPHA:2792 OMIM:277590 OMIM:602361 OMIM:618763 OMIM:259775 OMIM:600901 OMIM:609053 OMIM:614083 ORPHA:438178 OMIM:616154 ORPHA:466722 OMIM:614946 OMIM:619013 OMIM:613658 OMIM:618855 OMIM:606220 OMIM:615471 OMIM:618089 OMIM:619777 OMIM:620012 OMIM:618324 OMIM:618156 ORPHA:543470 OMIM:305400 ORPHA:2363 OMIM:301058 ORPHA:2396 OMIM:613001 OMIM:615465 OMIM:123790 ORPHA:93259 OMIM:616482 OMIM:610474 ORPHA:53271 OMIM:602849 ORPHA:85165 OMIM:187600 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:208441 ORPHA:3472 OMIM:216340 OMIM:618635 ORPHA:370959 ORPHA:370968 OMIM:236670 ORPHA:272 OMIM:610883 ORPHA:2308 ORPHA:90652 ORPHA:56305 OMIM:225790 OMIM:616193 ORPHA:261483 OMIM:619705 ORPHA:95494 ORPHA:95713 OMIM:265380 OMIM:613454 OMIM:613670 OMIM:304790 ORPHA:2609 OMIM:618241 OMIM:136570 OMIM:616819 ORPHA:466688 OMIM:620094 OMIM:300983 OMIM:616981 ORPHA:51208 OMIM:612938 OMIM:309549 OMIM:230000 ORPHA:349 OMIM:618005 ORPHA:1136 OMIM:612541 OMIM:615744 OMIM:618557 OMIM:618559 OMIM:617153 OMIM:617829 OMIM:617113 OMIM:618396 OMIM:619124 ORPHA:206436 OMIM:230350 OMIM:618885 ORPHA:79239 OMIM:612736 ORPHA:382 ORPHA:251071 OMIM:600001 OMIM:615074 ORPHA:363686 OMIM:612718 OMIM:230900 OMIM:231670 OMIM:233910 ORPHA:33574 OMIM:300849 OMIM:617913 OMIM:619333 ORPHA:363717 ORPHA:330054 OMIM:613076 ORPHA:565624 OMIM:618397 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:608804 OMIM:307030 ORPHA:79255 OMIM:230500 OMIM:615849 OMIM:610829 OMIM:175700 ORPHA:672 OMIM:146510 OMIM:610199 OMIM:618412 OMIM:618339 ORPHA:35878 OMIM:610015 OMIM:220120 ORPHA:941 OMIM:272750 OMIM:615510 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:619854 OMIM:615473 OMIM:617493 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 ORPHA:3166 OMIM:269921 OMIM:252500 OMIM:252940 OMIM:619603 ORPHA:2078 OMIM:617810 ORPHA:373 OMIM:615501 OMIM:616939 OMIM:616281 ORPHA:477673 ORPHA:96182 OMIM:619927 OMIM:618917 ORPHA:364028 OMIM:617864 OMIM:616204 OMIM:611092 OMIM:619580 ORPHA:208447 OMIM:619814 OMIM:617820 ORPHA:289266 OMIM:245570 OMIM:616139 OMIM:613970 OMIM:617162 OMIM:614831 OMIM:618922 OMIM:618646 OMIM:616395 OMIM:617988 ORPHA:444013 OMIM:616198 OMIM:617065 ORPHA:2089 OMIM:617537 OMIM:180860 OMIM:619720 OMIM:619721 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 OMIM:616756 ORPHA:464282 ORPHA:5 OMIM:609015 ORPHA:2157 OMIM:610738 OMIM:618482 ORPHA:1001 OMIM:600430 OMIM:619797 OMIM:300882 ORPHA:3459 OMIM:617268 OMIM:616911 OMIM:261990 OMIM:617011 ORPHA:457359 OMIM:615516 OMIM:176270 OMIM:182230 OMIM:252930 OMIM:250620 OMIM:616881 OMIM:616977 OMIM:618547 OMIM:253270 ORPHA:94063 OMIM:300915 OMIM:246450 ORPHA:261265 ORPHA:93111 OMIM:616739 OMIM:620083 OMIM:300986 OMIM:616580 OMIM:620073 ORPHA:238769 OMIM:617391 ORPHA:79233 OMIM:300322 OMIM:614075 OMIM:218040 OMIM:619194 OMIM:301025 ORPHA:391428 ORPHA:391457 OMIM:300438 OMIM:261515 ORPHA:90791 OMIM:616854 OMIM:612233 OMIM:617435 OMIM:309590 ORPHA:85163 OMIM:610532 ORPHA:541423 OMIM:617093 OMIM:616007 ORPHA:99646 OMIM:613657 ORPHA:217093 ORPHA:217085 OMIM:607014 ORPHA:93473 OMIM:614231 OMIM:615846 OMIM:617781 OMIM:266920 OMIM:619471 OMIM:619582 OMIM:270450 ORPHA:464 OMIM:213300 ORPHA:559 OMIM:617404 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:618571 OMIM:618572 OMIM:619472 OMIM:618687 ORPHA:397933 OMIM:618451 OMIM:618088 OMIM:611174 OMIM:617613 OMIM:613385 ORPHA:228426 OMIM:616647 ORPHA:1065 OMIM:117360 ORPHA:208513 OMIM:243500 ORPHA:33 OMIM:118450 OMIM:613730 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:613641 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 ORPHA:85201 OMIM:606170 OMIM:618974 OMIM:616212 ORPHA:89844 OMIM:616784 OMIM:616366 OMIM:616056 OMIM:619913 ORPHA:98768 ORPHA:420561 OMIM:611816 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:618856 ORPHA:435628 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:617643 OMIM:618596 ORPHA:79137 OMIM:609446 OMIM:619725 OMIM:618658 OMIM:613720 ORPHA:439218 OMIM:121200 OMIM:617601 OMIM:617771 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:618109 OMIM:300534 OMIM:147920 OMIM:300867 OMIM:618505 OMIM:616490 OMIM:619476 OMIM:617296 ORPHA:2526 ORPHA:261323 OMIM:614255 OMIM:614213 ORPHA:2836 ORPHA:397946 OMIM:615411 OMIM:615282 OMIM:607131 OMIM:609460 OMIM:300982 OMIM:605130 OMIM:619934 OMIM:617284 OMIM:617768 OMIM:618512 OMIM:617788 ORPHA:221139 OMIM:613328 OMIM:615637 OMIM:615278 OMIM:609942 OMIM:600268 ORPHA:79396 OMIM:619599 OMIM:617114 ORPHA:79155 ORPHA:2065 OMIM:301006 ORPHA:370022 ORPHA:352682 OMIM:615191 OMIM:609049 OMIM:614115 OMIM:300257 OMIM:608840 OMIM:615071 OMIM:615438 OMIM:309585 OMIM:169400 ORPHA:364055 OMIM:620089 OMIM:620007 OMIM:614462 OMIM:606593 ORPHA:99812 OMIM:618103 OMIM:614340 ORPHA:75233 OMIM:616299 OMIM:617668 OMIM:617863 OMIM:616887 OMIM:277380 OMIM:619694 ORPHA:157973 OMIM:619179 OMIM:616540 OMIM:619180 OMIM:618090 ORPHA:1458 OMIM:600373 OMIM:222448 ORPHA:2143 ORPHA:2788 ORPHA:178377 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:615198 OMIM:619486 OMIM:614037 OMIM:615838 OMIM:615994 OMIM:616564 OMIM:605275 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:1272 ORPHA:459056 OMIM:616680 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:301031 ORPHA:397941 OMIM:614202 OMIM:248500 OMIM:618918 OMIM:615279 OMIM:615280 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 ORPHA:401835 OMIM:619692 OMIM:616430 OMIM:618273 OMIM:156200 OMIM:617188 ORPHA:85284 OMIM:308205 OMIM:210200 OMIM:210210 OMIM:609981 OMIM:252650 ORPHA:1596 OMIM:618959 OMIM:617339 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:1762 ORPHA:778 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:618009 ORPHA:369891 OMIM:616789 OMIM:613668 OMIM:616449 ORPHA:464738 OMIM:619286 OMIM:614976 ORPHA:261190 OMIM:600987 OMIM:618644 OMIM:615942 OMIM:617086 ORPHA:485421 OMIM:616486 OMIM:610951 ORPHA:79329 ORPHA:85202 OMIM:618329 OMIM:615673 ORPHA:401768 OMIM:300000 OMIM:300928 ORPHA:284339 OMIM:617228 ORPHA:2473 OMIM:615990 OMIM:617121 OMIM:249000 OMIM:248360 OMIM:251100 OMIM:251110 OMIM:277400 ORPHA:79283 OMIM:277410 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:618774 OMIM:176450 OMIM:252160 OMIM:606056 ORPHA:466768 OMIM:616688 OMIM:614741 OMIM:609180 OMIM:234050 OMIM:256810 OMIM:618499 OMIM:618567 OMIM:618951 OMIM:614582 OMIM:618378 OMIM:617950 OMIM:611719 OMIM:619025 OMIM:617664 OMIM:301032 OMIM:616834 OMIM:614947 OMIM:618248 OMIM:236250 ORPHA:395 OMIM:618367 OMIM:614702 ORPHA:457485 OMIM:250940 ORPHA:254930 OMIM:613559 OMIM:615035 OMIM:236270 ORPHA:2169 OMIM:620086 ORPHA:343 ORPHA:29 OMIM:610377 OMIM:254940 OMIM:619482 ORPHA:79476 OMIM:214450 ORPHA:33445 ORPHA:2290 OMIM:618116 OMIM:616521 OMIM:300855 ORPHA:276432 OMIM:617787 OMIM:619717 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:79279 ORPHA:79281 OMIM:609241 ORPHA:927 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:620033 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:614063 OMIM:618321 OMIM:617186 OMIM:619157 OMIM:618460 ORPHA:2177 OMIM:614019 OMIM:605013 OMIM:616116 OMIM:301020 OMIM:618243 OMIM:618236 OMIM:618249 OMIM:618235 OMIM:618253 OMIM:619272 OMIM:618234 OMIM:618233 ORPHA:70474 OMIM:618240 OMIM:618238 OMIM:618239 OMIM:618246 OMIM:619170 OMIM:618226 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:615833 OMIM:617201 OMIM:607734 ORPHA:2751 OMIM:619099 OMIM:618853 ORPHA:93400 ORPHA:93399 OMIM:618374 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:139474 ORPHA:363700 OMIM:601321 OMIM:193520 OMIM:618356 OMIM:617744 ORPHA:401986 OMIM:613735 ORPHA:447980 OMIM:602535 ORPHA:293978 OMIM:615577 OMIM:605711 ORPHA:404454 OMIM:615273 OMIM:618278 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:301039 ORPHA:209905 OMIM:610978 ORPHA:95712 ORPHA:527497 OMIM:617560 OMIM:618830 ORPHA:1451 OMIM:619260 OMIM:300967 ORPHA:2789 OMIM:257220 OMIM:607625 OMIM:609583 ORPHA:220497 OMIM:615722 ORPHA:401777 OMIM:619911 OMIM:249400 OMIM:619833 OMIM:618875 OMIM:117550 OMIM:619695 ORPHA:251383 OMIM:300831 OMIM:617241 OMIM:620001 OMIM:611091 OMIM:619012 ORPHA:320396 OMIM:618718 OMIM:256800 OMIM:617830 OMIM:613886 OMIM:618242 OMIM:619844 OMIM:618348 OMIM:616730 OMIM:618349 OMIM:618426 OMIM:617082 OMIM:617831 OMIM:618529 ORPHA:98794 OMIM:251290 OMIM:300555 OMIM:619075 ORPHA:544488 OMIM:300804 ORPHA:31 OMIM:619701 OMIM:300997 OMIM:616896 OMIM:300486 ORPHA:137831 OMIM:617729 ORPHA:85179 OMIM:311250 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:610125 OMIM:610915 ORPHA:2050 OMIM:618493 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:217385 OMIM:607432 ORPHA:79254 ORPHA:2209 OMIM:618158 OMIM:618458 OMIM:300558 OMIM:613320 ORPHA:216866 OMIM:234200 OMIM:616353 OMIM:618437 OMIM:615560 ORPHA:95720 OMIM:617641 OMIM:266150 OMIM:606054 ORPHA:35 OMIM:251280 OMIM:300088 ORPHA:101039 OMIM:618371 OMIM:261680 OMIM:608027 OMIM:615919 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:620047 OMIM:619150 OMIM:614613 ORPHA:280651 OMIM:615665 OMIM:213600 OMIM:312170 OMIM:614111 OMIM:245349 ORPHA:255182 ORPHA:79246 OMIM:608782 OMIM:620021 OMIM:170100 ORPHA:772 ORPHA:44 OMIM:214100 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614871 OMIM:266510 OMIM:614883 OMIM:614876 OMIM:614877 OMIM:614886 OMIM:614866 OMIM:614867 OMIM:614873 OMIM:614882 OMIM:617370 OMIM:616716 OMIM:614863 ORPHA:401820 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:615716 ORPHA:713 OMIM:614921 OMIM:615816 ORPHA:443811 OMIM:618298 OMIM:618725 ORPHA:79351 OMIM:617991 ORPHA:264580 ORPHA:79240 OMIM:619708 OMIM:617767 OMIM:619827 OMIM:616843 OMIM:114300 OMIM:617146 ORPHA:2461 OMIM:300868 OMIM:301072 OMIM:618580 OMIM:617816 OMIM:619356 ORPHA:488635 OMIM:616917 OMIM:618010 OMIM:618879 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:617599 OMIM:618143 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616025 OMIM:616809 OMIM:618440 ORPHA:60040 OMIM:602501 OMIM:603387 OMIM:618889 OMIM:619405 ORPHA:199351 OMIM:256600 OMIM:617527 ORPHA:521426 OMIM:618961 OMIM:619895 ORPHA:254361 OMIM:616763 OMIM:616171 OMIM:612394 OMIM:312080 ORPHA:280229 ORPHA:280219 OMIM:617290 OMIM:619955 OMIM:212065 ORPHA:79318 ORPHA:90658 ORPHA:1170 OMIM:213200 OMIM:617954 OMIM:613402 ORPHA:760 ORPHA:79096 OMIM:610090 OMIM:614813 OMIM:616364 ORPHA:468678 OMIM:301220 OMIM:301030 ORPHA:726 OMIM:203700 OMIM:613662 OMIM:610131 ORPHA:861 OMIM:616494 OMIM:607694 ORPHA:447896 OMIM:264090 ORPHA:3455 OMIM:619742 OMIM:614381 OMIM:619743 OMIM:253280 OMIM:614830 OMIM:615249 OMIM:613155 ORPHA:206559 OMIM:618604 ORPHA:1435 OMIM:619352 OMIM:620024 OMIM:617450 OMIM:617506 OMIM:618820 ORPHA:391408 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:616355 OMIM:617711 OMIM:256730 ORPHA:93946 OMIM:309500 ORPHA:93945 ORPHA:93950 OMIM:619909 OMIM:619761 OMIM:603553 OMIM:620005 OMIM:101800 OMIM:619680 OMIM:617364 OMIM:617157 ORPHA:464288 OMIM:612304 OMIM:239500 OMIM:619737 OMIM:301835 OMIM:300661 ORPHA:411543 ORPHA:423479 OMIM:619539 OMIM:617481 ORPHA:544469 OMIM:249900 OMIM:610992 ORPHA:284417 OMIM:620038 OMIM:619354 OMIM:617516 ORPHA:79350 OMIM:614023 OMIM:610828 ORPHA:77301 ORPHA:2658 OMIM:158350 OMIM:605309 OMIM:618890 ORPHA:456312 OMIM:616263 ORPHA:13 OMIM:261640 ORPHA:508488 OMIM:615583 OMIM:616158 ORPHA:438216 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:612940 OMIM:616420 ORPHA:481152 OMIM:615760 ORPHA:226 OMIM:261630 OMIM:617807 ORPHA:2510 OMIM:614222 OMIM:300271 OMIM:311510 OMIM:619420 ORPHA:401830 OMIM:212720 OMIM:614225 ORPHA:500159 OMIM:618577 OMIM:614701 OMIM:611553 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:616140 ORPHA:438114 OMIM:611523 OMIM:251255 OMIM:606744 OMIM:619690 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:616108 ORPHA:436245 OMIM:620011 OMIM:257320 OMIM:616975 ORPHA:494344 OMIM:162300 OMIM:612015 ORPHA:244310 OMIM:618004 OMIM:618761 OMIM:618970 OMIM:300978 OMIM:614922 OMIM:607095 OMIM:610333 OMIM:610329 OMIM:612951 OMIM:616260 OMIM:611943 ORPHA:420741 OMIM:619460 OMIM:226960 ORPHA:2636 OMIM:616651 OMIM:619487 OMIM:607313 OMIM:226750 OMIM:268310 OMIM:618060 OMIM:618357 OMIM:619113 OMIM:611560 OMIM:608611 OMIM:300998 OMIM:612528 OMIM:606164 ORPHA:192 OMIM:618624 OMIM:618402 OMIM:615190 ORPHA:468631 OMIM:615705 OMIM:617773 OMIM:107480 OMIM:617053 OMIM:612952 ORPHA:3129 OMIM:617709 OMIM:616402 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 ORPHA:46059 OMIM:619317 OMIM:607208 OMIM:617350 OMIM:613721 OMIM:617935 OMIM:617938 OMIM:614306 OMIM:614558 OMIM:604377 OMIM:619184 ORPHA:466794 OMIM:618766 OMIM:615993 ORPHA:3208 OMIM:252011 OMIM:619167 OMIM:618876 ORPHA:2524 OMIM:613811 OMIM:614739 OMIM:618106 OMIM:616078 ORPHA:798 OMIM:618832 OMIM:619056 OMIM:619000 OMIM:616831 OMIM:615761 OMIM:164210 OMIM:154400 OMIM:610913 OMIM:617575 OMIM:252900 ORPHA:261222 ORPHA:261197 ORPHA:48652 OMIM:606232 OMIM:142945 OMIM:607721 OMIM:619922 OMIM:616341 ORPHA:1935 OMIM:618162 OMIM:248800 ORPHA:171829 ORPHA:369873 ORPHA:94065 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:182212 ORPHA:84064 OMIM:618363 OMIM:601678 OMIM:619083 OMIM:619080 OMIM:616645 OMIM:218000 ORPHA:1496 OMIM:615905 OMIM:616095 OMIM:300523 OMIM:269920 OMIM:604369 ORPHA:352649 OMIM:618049 OMIM:249270 ORPHA:263410 OMIM:607483 OMIM:617105 OMIM:616657 OMIM:212140 OMIM:615182 OMIM:618197 OMIM:612949 ORPHA:247585 OMIM:238970 ORPHA:99742 ORPHA:159 OMIM:616794 OMIM:618416 OMIM:616505 OMIM:619303 ORPHA:71277 OMIM:606777 OMIM:612126 ORPHA:168577 OMIM:608885 ORPHA:3342 OMIM:227810 OMIM:617595 OMIM:614482 OMIM:603585 OMIM:300896 ORPHA:356961 OMIM:615553 OMIM:266265 ORPHA:79259 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:617532 OMIM:229050 ORPHA:90045 OMIM:618973 OMIM:616269 ORPHA:457212 OMIM:234500 ORPHA:238455 OMIM:613135 OMIM:614618 OMIM:300352 ORPHA:52503 OMIM:617301 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:619657 ORPHA:2588 OMIM:619293 ORPHA:3051 OMIM:601358 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:618779 OMIM:617475 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:616920 OMIM:601707 OMIM:257200 OMIM:618622 OMIM:309583 OMIM:616330 ORPHA:66631 OMIM:609528 OMIM:614501 ORPHA:542310 OMIM:614561 OMIM:105830 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 ORPHA:500150 OMIM:617140 OMIM:616559 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:137940 ORPHA:77298 OMIM:300123 ORPHA:67045 OMIM:616803 OMIM:618971 OMIM:114290 ORPHA:101000 OMIM:275900 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:145420 OMIM:619312 ORPHA:101001 OMIM:256500 ORPHA:634 OMIM:618828 OMIM:612716 OMIM:619745 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:617519 OMIM:612379 ORPHA:324737 OMIM:618752 OMIM:300934 ORPHA:370927 OMIM:615006 OMIM:609056 OMIM:617635 ORPHA:502434 OMIM:301043 OMIM:301022 ORPHA:521258 OMIM:614261 OMIM:618886 OMIM:301013 OMIM:612703 OMIM:611087 ORPHA:500533 ORPHA:281090 OMIM:615596 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:412057 OMIM:603552 OMIM:616172 OMIM:619446 OMIM:612164 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 OMIM:617757 ORPHA:35706 ORPHA:585 OMIM:272200 OMIM:272300 OMIM:619480 OMIM:220110 OMIM:618786 OMIM:612621 ORPHA:544254 OMIM:618218 ORPHA:522077 ORPHA:284271 OMIM:614229 OMIM:615476 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:617126 OMIM:619972 OMIM:302060 ORPHA:101028 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:615918 OMIM:618950 OMIM:617695 OMIM:220500 OMIM:615338 OMIM:605021 ORPHA:352596 ORPHA:397973 OMIM:248000 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:616900 ORPHA:488632 OMIM:616944 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:606053 ORPHA:1727 OMIM:188400 OMIM:618223 ORPHA:261279 OMIM:615314 OMIM:618430 ORPHA:2896 OMIM:616654 ORPHA:2753 ORPHA:320385 OMIM:615031 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:613989 OMIM:619126 OMIM:618798 OMIM:169100 ORPHA:46627 OMIM:301066 OMIM:616145 OMIM:618213 OMIM:609192 OMIM:610168 OMIM:613680 ORPHA:363444 OMIM:619989 OMIM:619908 OMIM:617698 OMIM:618251 OMIM:268130 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:615432 OMIM:617964 OMIM:617562 OMIM:617563 OMIM:614727 OMIM:616829 OMIM:608091 OMIM:619562 OMIM:619470 OMIM:614970 OMIM:614424 OMIM:607454 OMIM:615066 OMIM:619727 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:617255 OMIM:618730 OMIM:612301 OMIM:619556 OMIM:619653 OMIM:619243 OMIM:614969 OMIM:619185 ORPHA:93357 OMIM:618097 OMIM:618947 OMIM:618165 OMIM:617730 OMIM:615512 OMIM:614458 ORPHA:444463 OMIM:619220 OMIM:617731 OMIM:616629 OMIM:618164 OMIM:616777 OMIM:618201 OMIM:620027 ORPHA:369847 OMIM:615356 ORPHA:500144 OMIM:617669 OMIM:618351 OMIM:618331 OMIM:618741 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:225750 OMIM:619428 OMIM:618825 ORPHA:476126 OMIM:617752 OMIM:617598 OMIM:616866 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616539 ORPHA:1349 ORPHA:254857 OMIM:616084 OMIM:618454 OMIM:617026 OMIM:277470 OMIM:225753 OMIM:610505 ORPHA:424 OMIM:615157 OMIM:619534 OMIM:615985 OMIM:615541 ORPHA:391307 ORPHA:171680 ORPHA:467166 ORPHA:250972 OMIM:615771 OMIM:615763 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:615412 OMIM:616335 OMIM:251270 OMIM:611093 OMIM:617746 ORPHA:920 OMIM:609286 ORPHA:478029 OMIM:616811 ORPHA:238446 ORPHA:411511 ORPHA:98795 ORPHA:2707 OMIM:619189 ORPHA:500180 OMIM:617672 OMIM:620028 OMIM:618792 OMIM:618744 ORPHA:30 OMIM:258900 OMIM:619377 OMIM:616801 OMIM:613161 OMIM:615824 OMIM:616111 OMIM:615160 OMIM:615159 ORPHA:500055 OMIM:616863 OMIM:300968 OMIM:300919 ORPHA:480880 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:614402 OMIM:613404 OMIM:224050 OMIM:616683 ORPHA:466934 ORPHA:193 ORPHA:505248 OMIM:617303 OMIM:620009 OMIM:208085 OMIM:619135 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:607596 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 ORPHA:572798 OMIM:615817 OMIM:220210 OMIM:619227 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:618652 OMIM:618347 OMIM:618346 ORPHA:329284 OMIM:300894 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:618453 OMIM:615220 OMIM:616211 OMIM:614322 OMIM:616541 OMIM:615777 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:617665 OMIM:617557 ORPHA:506358 OMIM:618383 ORPHA:36367 OMIM:612337 OMIM:259050 OMIM:619769 ORPHA:3454 OMIM:314580 OMIM:301041 ORPHA:401840 OMIM:616602 OMIM:609637 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:618425 OMIM:617260 OMIM:619188 OMIM:615095 OMIM:619557 OMIM:618619 OMIM:619877 OMIM:619488 OMIM:619644 OMIM:260565 OMIM:619321 ORPHA:1827 OMIM:617865
 

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