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 H383663OMIM:207800Argininemia.31
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040281 - Very frequent31
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 H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
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 H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0001263HP:0001263Global developmental delay0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
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 H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
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 H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
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 H12956328648OMIM:267000Perlman syndrome.164
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
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 H19683267OMIM:300148Mehmo syndrome8
HP:0001263HP:0001263Global developmental delay0EIF2S3 CL E G H19683267ORPHA:85282MEHMO 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