Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Neurodevelopmental delay (HP:0012758)help
..Starting node
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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; 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001263HP:0001263Global developmental delay0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0001263HP:0001263Global developmental delay0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0001263HP:0001263Global developmental delay0AARS CL E G H16442835ORPHA120601065
HP:0001263HP:0001263Global developmental delay0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001263HP:0001263Global developmental delay0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM141723137150
HP:0001263HP:0001263Global developmental delay0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM150723137150
HP:0001263HP:0001263Global developmental delay0ABCB7 CL E G H222802ORPHA124648300135
HP:0001263HP:0001263Global developmental delay0ABCB7 CL E G H222802ORPHA125148300135
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399885ORPHA1112559600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399885ORPHA1125359600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399886ORPHA1112559600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399886ORPHA1125359600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0001263HP:0001263Global developmental delay0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0001263HP:0001263Global developmental delay0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0001263HP:0001263Global developmental delay0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0001263HP:0001263Global developmental delay0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0001263HP:0001263Global developmental delay0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001263HP:0001263Global developmental delay0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001263HP:0001263Global developmental delay0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0001263HP:0001263Global developmental delay0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0001263HP:0001263Global developmental delay0ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0001263HP:0001263Global developmental delay0ACD CL E G H650573322ORPHA122925070609377
HP:0001263HP:0001263Global developmental delay0ACD CL E G H650573322ORPHA132125070609377
HP:0001263HP:0001263Global developmental delay0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM122925070609377
HP:0001263HP:0001263Global developmental delay0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM132125070609377
HP:0001263HP:0001263Global developmental delay0ACOX1 CL E G H512971ORPHA1388119609751
HP:0001263HP:0001263Global developmental delay0ACOX1 CL E G H512971ORPHA1435119609751
HP:0001263HP:0001263Global developmental delay0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0001263HP:0001263Global developmental delay0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0001263HP:0001263Global developmental delay0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM157027288614245
HP:0001263HP:0001263Global developmental delay0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM161527288614245
HP:0001263HP:0001263Global developmental delay0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0001263HP:0001263Global developmental delay0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H6079107ORPHA1322132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H6079107ORPHA1349132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001263HP:0001263Global developmental delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001263HP:0001263Global developmental delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001263HP:0001263Global developmental delay0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001263HP:0001263Global developmental delay0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001263HP:0001263Global developmental delay0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001263HP:0001263Global developmental delay0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H10351ORPHA1471225146920
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H10351ORPHA1654225146920
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001263HP:0001263Global developmental delay0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0001263HP:0001263Global developmental delay0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM188245601568
HP:0001263HP:0001263Global developmental delay0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0001263HP:0001263Global developmental delay0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0001263HP:0001263Global developmental delay0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0001263HP:0001263Global developmental delay0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0001263HP:0001263Global developmental delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001263HP:0001263Global developmental delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001263HP:0001263Global developmental delay0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM111217869604417
HP:0001263HP:0001263Global developmental delay0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM115717869604417
HP:0001263HP:0001263Global developmental delay0AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H19188618ORPHA1113343180960
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H19188618ORPHA1126343180960
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1113343180960
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1126343180960
HP:0001263HP:0001263Global developmental delay0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM131225230615790
HP:0001263HP:0001263Global developmental delay0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM137325230615790
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806220493ORPHA165021575608894
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806220493ORPHA182721575608894
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA165021575608894
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA182721575608894
HP:0001263HP:0001263Global developmental delay0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0001263HP:0001263Global developmental delay0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0001263HP:0001263Global developmental delay0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0001263HP:0001263Global developmental delay0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0001263HP:0001263Global developmental delay0AKT1 CL E G H207201ORPHA1380391164730
HP:0001263HP:0001263Global developmental delay0AKT1 CL E G H207201ORPHA1417391164730
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H583235664ORPHA13469722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H583235664ORPHA13929722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13469722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13929722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1472408610045
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1537408610045
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0001263HP:0001263Global developmental delay0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001263HP:0001263Global developmental delay0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H5013006ORPHA1619877107323
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H5013006ORPHA1696877107323
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H5605279327ORPHA126018294605907
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H5605279327ORPHA139118294605907
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001263HP:0001263Global developmental delay0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117032456613666
HP:0001263HP:0001263Global developmental delay0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117932456613666
HP:0001263HP:0001263Global developmental delay0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM130219358607144
HP:0001263HP:0001263Global developmental delay0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM139019358607144
HP:0001263HP:0001263Global developmental delay0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM163330881300776
HP:0001263HP:0001263Global developmental delay0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM171030881300776
HP:0001263HP:0001263Global developmental delay0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0001263HP:0001263Global developmental delay0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H1019579321ORPHA115923056608750
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H1019579321ORPHA116623056608750
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H2992979320ORPHA131423157604566
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H2992979320ORPHA140423157604566
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM131423157604566
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM140423157604566
HP:0001263HP:0001263Global developmental delay0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001263HP:0001263Global developmental delay0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001263HP:0001263Global developmental delay0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0001263HP:0001263Global developmental delay0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0001263HP:0001263Global developmental delay0ALX4 CL E G H6052952022ORPHA1245450605420
HP:0001263HP:0001263Global developmental delay0ALX4 CL E G H6052952022ORPHA1246450605420
HP:0001263HP:0001263Global developmental delay0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1172469102771
HP:0001263HP:0001263Global developmental delay0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1230469102771
HP:0001263HP:0001263Global developmental delay0ANK1 CL E G H286251066ORPHA1567492612641
HP:0001263HP:0001263Global developmental delay0ANK1 CL E G H286251066ORPHA1604492612641
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H231412512ORPHA118429101616062
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H231412512ORPHA118929101616062
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118429101616062
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118929101616062
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H291232332ORPHA1110121316611192
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H291232332ORPHA1118421316611192
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1110121316611192
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1118421316611192
HP:0001263HP:0001263Global developmental delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001263HP:0001263Global developmental delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585329ORPHA1216560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585329ORPHA1219560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585335ORPHA1216560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585335ORPHA1219560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1117567602166
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1288567602166
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001263HP:0001263Global developmental delay0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM171322197613653
HP:0001263HP:0001263Global developmental delay0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM178022197613653
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H10297821ORPHA117924036612034
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H10297821ORPHA119424036612034
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0001263HP:0001263Global developmental delay0APP CL E G H351324703ORPHA1320620104760
HP:0001263HP:0001263Global developmental delay0APP CL E G H351324703ORPHA1364620104760
HP:0001263HP:0001263Global developmental delay0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM142615853605371
HP:0001263HP:0001263Global developmental delay0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM145915853605371
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H38390ORPHA1234663608313
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H38390ORPHA1295663608313
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1234663608313
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1295663608313
HP:0001263HP:0001263Global developmental delay0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001263HP:0001263Global developmental delay0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H82891465ORPHA138311110603024
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H82891465ORPHA144211110603024
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H574921465ORPHA186618040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H574921465ORPHA195818040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492251056ORPHA186618040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492251056ORPHA195818040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001263HP:0001263Global developmental delay0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0001263HP:0001263Global developmental delay0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA118425419608922
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA122225419608922
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA164694604695
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA190694604695
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM164694604695
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM190694604695
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA125120730617612
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA138020730617612
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0001263HP:0001263Global developmental delay0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM16216876606036
HP:0001263HP:0001263Global developmental delay0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM18416876606036
HP:0001263HP:0001263Global developmental delay0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0001263HP:0001263Global developmental delay0ARVCF CL E G H421567ORPHA1544728602269
HP:0001263HP:0001263Global developmental delay0ARVCF CL E G H421567ORPHA1550728602269
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302452ORPHA156518060300382
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302452ORPHA162418060300382
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001263HP:0001263Global developmental delay0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0001263HP:0001263Global developmental delay0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0001263HP:0001263Global developmental delay0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0001263HP:0001263Global developmental delay0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443314911ORPHA1245756608034
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443314911ORPHA1281756608034
HP:0001263HP:0001263Global developmental delay0ASPM CL E G H2592662512ORPHA192019048605481
HP:0001263HP:0001263Global developmental delay0ASPM CL E G H2592662512ORPHA1110319048605481
HP:0001263HP:0001263Global developmental delay0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0001263HP:0001263Global developmental delay0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H17102397297ORPHA129818318612990
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H17102397297ORPHA138818318612990
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001263HP:0001263Global developmental delay0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0001263HP:0001263Global developmental delay0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0001263HP:0001263Global developmental delay0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001263HP:0001263Global developmental delay0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210496790ORPHA125025567612316
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210496790ORPHA126425567612316
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H8530094122ORPHA1175779608179
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H8530094122ORPHA1179779608179
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0001263HP:0001263Global developmental delay0ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM133589604261
HP:0001263HP:0001263Global developmental delay0ATP1A1 CL E G H476618314618314618314OMIM186799182310
HP:0001263HP:0001263Global developmental delay0ATP1A1 CL E G H476618314618314618314OMIM1131799182310
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0001263HP:0001263Global developmental delay0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001263HP:0001263Global developmental delay0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H23545357074ORPHA141718481611716
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H23545357074ORPHA145818481611716
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523357074ORPHA179851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523357074ORPHA193851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1E1 CL E G H529357074ORPHA1160857108746
HP:0001263HP:0001263Global developmental delay0ATP6V1E1 CL E G H529357074ORPHA1168857108746
HP:0001263HP:0001263Global developmental delay0ATP7A CL E G H538198ORPHA1897869300011
HP:0001263HP:0001263Global developmental delay0ATP7A CL E G H538198ORPHA11003869300011
HP:0001263HP:0001263Global developmental delay0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0001263HP:0001263Global developmental delay0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0001263HP:0001263Global developmental delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001263HP:0001263Global developmental delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001263HP:0001263Global developmental delay0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0001263HP:0001263Global developmental delay0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0001263HP:0001263Global developmental delay0AUH CL E G H54967046ORPHA1145890600529
HP:0001263HP:0001263Global developmental delay0AUH CL E G H54967046ORPHA1177890600529
HP:0001263HP:0001263Global developmental delay0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0001263HP:0001263Global developmental delay0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0001263HP:0001263Global developmental delay0B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001263HP:0001263Global developmental delay0B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173709ORPHA122620207610308
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173709ORPHA124820207610308
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0001263HP:0001263Global developmental delay0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0001263HP:0001263Global developmental delay0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA119624123614144
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA123024123614144
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0001263HP:0001263Global developmental delay0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001263HP:0001263Global developmental delay0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001263HP:0001263Global developmental delay0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM128216695300398
HP:0001263HP:0001263Global developmental delay0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130116695300398
HP:0001263HP:0001263Global developmental delay0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0001263HP:0001263Global developmental delay0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0001263HP:0001263Global developmental delay0BCR CL E G H613261330ORPHA12141014151410
HP:0001263HP:0001263Global developmental delay0BCR CL E G H613261330ORPHA12171014151410
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001263HP:0001263Global developmental delay0BMP2 CL E G H650261295ORPHA1921069112261
HP:0001263HP:0001263Global developmental delay0BMP2 CL E G H650261295ORPHA11111069112261
HP:0001263HP:0001263Global developmental delay0BMP4 CL E G H652139471ORPHA11121071112262
HP:0001263HP:0001263Global developmental delay0BMP4 CL E G H652139471ORPHA11291071112262
HP:0001263HP:0001263Global developmental delay0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0001263HP:0001263Global developmental delay0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0001263HP:0001263Global developmental delay0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM16424415613183
HP:0001263HP:0001263Global developmental delay0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17024415613183
HP:0001263HP:0001263Global developmental delay0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11293581601819
HP:0001263HP:0001263Global developmental delay0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11393581601819
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM172521701614506
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM184721701614506
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H67284ORPHA1122071100113705
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H67284ORPHA1125861100113705
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1122071100113705
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1125861100113705
HP:0001263HP:0001263Global developmental delay0BRCA2 CL E G H67584ORPHA1139121101600185
HP:0001263HP:0001263Global developmental delay0BRCA2 CL E G H67584ORPHA1147421101600185
HP:0001263HP:0001263Global developmental delay0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0001263HP:0001263Global developmental delay0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H8399084ORPHA1346420473605882
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H8399084ORPHA1377820473605882
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1346420473605882
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1377820473605882
HP:0001263HP:0001263Global developmental delay0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0001263HP:0001263Global developmental delay0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0001263HP:0001263Global developmental delay0BTD CL E G H68679241ORPHA13661122609019
HP:0001263HP:0001263Global developmental delay0BTD CL E G H68679241ORPHA14091122609019
HP:0001263HP:0001263Global developmental delay0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001263HP:0001263Global developmental delay0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001263HP:0001263Global developmental delay0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0001263HP:0001263Global developmental delay0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0001263HP:0001263Global developmental delay0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0001263HP:0001263Global developmental delay0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0001263HP:0001263Global developmental delay0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H1132461777ORPHA119929521615140
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H1132461777ORPHA120829521615140
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0001263HP:0001263Global developmental delay0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001263HP:0001263Global developmental delay0CA2 CL E G H7602785ORPHA11041373611492
HP:0001263HP:0001263Global developmental delay0CA2 CL E G H7602785ORPHA11191373611492
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001263HP:0001263Global developmental delay0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM116581390114205
HP:0001263HP:0001263Global developmental delay0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM118301390114205
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776369929ORPHA14771391114206
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776369929ORPHA17441391114206
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM14771391114206
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM17441391114206
HP:0001263HP:0001263Global developmental delay0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001263HP:0001263Global developmental delay0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001263HP:0001263Global developmental delay0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001263HP:0001263Global developmental delay0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1561460114078
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1621460114078
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0001263HP:0001263Global developmental delay0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001263HP:0001263Global developmental delay0CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0001263HP:0001263Global developmental delay0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0001263HP:0001263Global developmental delay0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM15831497300172
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM16331497300172
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM15831497300172
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM16331497300172
HP:0001263HP:0001263Global developmental delay0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM17061541165360
HP:0001263HP:0001263Global developmental delay0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM18581541165360
HP:0001263HP:0001263Global developmental delay0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0001263HP:0001263Global developmental delay0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0001263HP:0001263Global developmental delay0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM116930237610055
HP:0001263HP:0001263Global developmental delay0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM117530237610055
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001263HP:0001263Global developmental delay0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16028033616735
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0001263HP:0001263Global developmental delay0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM16725523609736
HP:0001263HP:0001263Global developmental delay0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM132225523609736
HP:0001263HP:0001263Global developmental delay0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11101583123833
HP:0001263HP:0001263Global developmental delay0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11171583123833
HP:0001263HP:0001263Global developmental delay0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1341596603544
HP:0001263HP:0001263Global developmental delay0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1371596603544
HP:0001263HP:0001263Global developmental delay0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0001263HP:0001263Global developmental delay0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0001263HP:0001263Global developmental delay0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15001739603465
HP:0001263HP:0001263Global developmental delay0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15421739603465
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H838792268ORPHA15614628609937
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H838792268ORPHA110314628609937
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM15614628609937
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM110314628609937
HP:0001263HP:0001263Global developmental delay0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1521750600023
HP:0001263HP:0001263Global developmental delay0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1591750600023
HP:0001263HP:0001263Global developmental delay0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0001263HP:0001263Global developmental delay0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0001263HP:0001263Global developmental delay0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1901770603464
HP:0001263HP:0001263Global developmental delay0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1941770603464
HP:0001263HP:0001263Global developmental delay0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0001263HP:0001263Global developmental delay0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0001263HP:0001263Global developmental delay0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001263HP:0001263Global developmental delay0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H557552512ORPHA145418672608201
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H557552512ORPHA146318672608201
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM145418672608201
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM146318672608201
HP:0001263HP:0001263Global developmental delay0CDK6 CL E G H10212512ORPHA1451777603368
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0001263HP:0001263Global developmental delay0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM148917104608707
HP:0001263HP:0001263Global developmental delay0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM151817104608707
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H558352512ORPHA134717272609279
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H558352512ORPHA139917272609279
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA135424866616690
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA138424866616690
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241220493ORPHA121026690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241220493ORPHA125026690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA121026690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA125026690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM121026690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM125026690613446
HP:0001263HP:0001263Global developmental delay0CEP135 CL E G H96622512ORPHA117629086611423
HP:0001263HP:0001263Global developmental delay0CEP135 CL E G H96622512ORPHA124529086611423
HP:0001263HP:0001263Global developmental delay0CEP152 CL E G H229952512ORPHA133429298613529
HP:0001263HP:0001263Global developmental delay0CEP152 CL E G H229952512ORPHA140429298613529
HP:0001263HP:0001263Global developmental delay0CEP164 CL E G H228973156ORPHA149829182614848
HP:0001263HP:0001263Global developmental delay0CEP164 CL E G H228973156ORPHA169229182614848
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801843156ORPHA1153529021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801843156ORPHA1190229021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM1153529021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM1190229021610142
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681220493ORPHA129712370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681220493ORPHA134712370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA129712370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA134712370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM129712370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM134712370610523
HP:0001263HP:0001263Global developmental delay0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0001263HP:0001263Global developmental delay0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H802542512ORPHA116725815614724
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H802542512ORPHA120025815614724
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM116725815614724
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM120025815614724
HP:0001263HP:0001263Global developmental delay0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0001263HP:0001263Global developmental delay0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105529965ORPHA1671915602118
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105529965ORPHA1741915602118
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1671915602118
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1741915602118
HP:0001263HP:0001263Global developmental delay0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM111631917602119
HP:0001263HP:0001263Global developmental delay0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM113261917602119
HP:0001263HP:0001263Global developmental delay0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0001263HP:0001263Global developmental delay0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0001263HP:0001263Global developmental delay0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0001263HP:0001263Global developmental delay0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0001263HP:0001263Global developmental delay0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0001263HP:0001263Global developmental delay0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0001263HP:0001263Global developmental delay0CHRNA7 CL E G H1139199318ORPHA13401960118511
HP:0001263HP:0001263Global developmental delay0CHRNA7 CL E G H1139199318ORPHA13461960118511
HP:0001263HP:0001263Global developmental delay0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0001263HP:0001263Global developmental delay0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0001263HP:0001263Global developmental delay0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0001263HP:0001263Global developmental delay0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0001263HP:0001263Global developmental delay0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM119114214612082
HP:0001263HP:0001263Global developmental delay0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM121214214612082
HP:0001263HP:0001263Global developmental delay0CIT CL E G H111132512ORPHA13191985605629
HP:0001263HP:0001263Global developmental delay0CIT CL E G H111132512ORPHA13291985605629
HP:0001263HP:0001263Global developmental delay0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13191985605629
HP:0001263HP:0001263Global developmental delay0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13291985605629
HP:0001263HP:0001263Global developmental delay0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001263HP:0001263Global developmental delay0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001263HP:0001263Global developmental delay0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM14792022302910
HP:0001263HP:0001263Global developmental delay0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM15122022302910
HP:0001263HP:0001263Global developmental delay0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM12462063300138
HP:0001263HP:0001263Global developmental delay0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM12542063300138
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213442835ORPHA11022092118955
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213442835ORPHA12022092118955
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM11022092118955
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM12022092118955
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM124919701300724
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM125619701300724
HP:0001263HP:0001263Global developmental delay0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1176103607803
HP:0001263HP:0001263Global developmental delay0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1191103607803
HP:0001263HP:0001263Global developmental delay0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0001263HP:0001263Global developmental delay0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0001263HP:0001263Global developmental delay0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0001263HP:0001263Global developmental delay0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0001263HP:0001263Global developmental delay0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM110729932609855
HP:0001263HP:0001263Global developmental delay0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM115029932609855
HP:0001263HP:0001263Global developmental delay0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0001263HP:0001263Global developmental delay0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796435934ORPHA11476546606974
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796435934ORPHA11596546606974
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839263501ORPHA122118620606976
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839263501ORPHA124718620606976
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM122118620606976
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM124718620606976
HP:0001263HP:0001263Global developmental delay0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM128118621606977
HP:0001263HP:0001263Global developmental delay0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM129718621606977
HP:0001263HP:0001263Global developmental delay0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA119352201120180
HP:0001263HP:0001263Global developmental delay0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA120832201120180
HP:0001263HP:0001263Global developmental delay0COL4A1 CL E G H1282899ORPHA18372202120130
HP:0001263HP:0001263Global developmental delay0COL4A1 CL E G H1282899ORPHA110102202120130
HP:0001263HP:0001263Global developmental delay0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM17642203120090
HP:0001263HP:0001263Global developmental delay0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM18572203120090
HP:0001263HP:0001263Global developmental delay0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0001263HP:0001263Global developmental delay0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA120772209120215
HP:0001263HP:0001263Global developmental delay0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA122462209120215
HP:0001263HP:0001263Global developmental delay0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM16217213612502
HP:0001263HP:0001263Global developmental delay0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM16517213612502
HP:0001263HP:0001263Global developmental delay0COLQ CL E G H829298915ORPHA13642226603033
HP:0001263HP:0001263Global developmental delay0COLQ CL E G H829298915ORPHA14182226603033
HP:0001263HP:0001263Global developmental delay0COMT CL E G H1312567ORPHA15792228116790
HP:0001263HP:0001263Global developmental delay0COMT CL E G H1312567ORPHA15872228116790
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762512ORPHA1512232606990
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762512ORPHA1632232606990
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1512232606990
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1632232606990
HP:0001263HP:0001263Global developmental delay0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0001263HP:0001263Global developmental delay0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0001263HP:0001263Global developmental delay0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001263HP:0001263Global developmental delay0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001263HP:0001263Global developmental delay0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM12602252605000
HP:0001263HP:0001263Global developmental delay0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13012252605000
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001263HP:0001263Global developmental delay0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0001263HP:0001263Global developmental delay0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H1355255241ORPHA12162263603646
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001263HP:0001263Global developmental delay0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0001263HP:0001263Global developmental delay0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0001263HP:0001263Global developmental delay0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM14616232607976
HP:0001263HP:0001263Global developmental delay0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15116232607976
HP:0001263HP:0001263Global developmental delay0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0001263HP:0001263Global developmental delay0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0001263HP:0001263Global developmental delay0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11712291300885
HP:0001263HP:0001263Global developmental delay0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11752291300885
HP:0001263HP:0001263Global developmental delay0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA182425801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1123925801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM182425801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM1123925801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815352582ORPHA11512309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815352582ORPHA11632309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0001263HP:0001263Global developmental delay0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM18142323608307
HP:0001263HP:0001263Global developmental delay0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM19102323608307
HP:0001263HP:0001263Global developmental delay0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM112430185609262
HP:0001263HP:0001263Global developmental delay0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM113230185609262
HP:0001263HP:0001263Global developmental delay0CRKL CL E G H1399261330ORPHA13982363602007
HP:0001263HP:0001263Global developmental delay0CRKL CL E G H1399261330ORPHA14062363602007
HP:0001263HP:0001263Global developmental delay0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0001263HP:0001263Global developmental delay0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA147626193611654
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA168726193611654
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM147626193611654
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM168726193611654
HP:0001263HP:0001263Global developmental delay0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0001263HP:0001263Global developmental delay0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0001263HP:0001263Global developmental delay0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0001263HP:0001263Global developmental delay0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0001263HP:0001263Global developmental delay0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM119013723604167
HP:0001263HP:0001263Global developmental delay0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM120113723604167
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H915048431ORPHA13232498604927
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H915048431ORPHA13482498604927
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0001263HP:0001263Global developmental delay0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0001263HP:0001263Global developmental delay0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM12692514116806
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM13642514116806
HP:0001263HP:0001263Global developmental delay0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM16819347610648
HP:0001263HP:0001263Global developmental delay0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM17519347610648
HP:0001263HP:0001263Global developmental delay0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM113510664617170
HP:0001263HP:0001263Global developmental delay0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM119610664617170
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0001263HP:0001263Global developmental delay0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM126239301012
HP:0001263HP:0001263Global developmental delay0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001263HP:0001263Global developmental delay0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001263HP:0001263Global developmental delay0CYFIP2 CL E G H26999442835ORPHA18413760606323
HP:0001263HP:0001263Global developmental delay0CYFIP2 CL E G H26999442835ORPHA117513760606323
HP:0001263HP:0001263Global developmental delay0CYP2U1 CL E G H113612320411ORPHA112520582610670
HP:0001263HP:0001263Global developmental delay0CYP2U1 CL E G H113612320411ORPHA117220582610670
HP:0001263HP:0001263Global developmental delay0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM133128358609186
HP:0001263HP:0001263Global developmental delay0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM135728358609186
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605899ORPHA13762666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605899ORPHA14672666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0001263HP:0001263Global developmental delay0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM11602701120470
HP:0001263HP:0001263Global developmental delay0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM11622701120470
HP:0001263HP:0001263Global developmental delay0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0001263HP:0001263Global developmental delay0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0001263HP:0001263Global developmental delay0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0001263HP:0001263Global developmental delay0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259320380ORPHA119229106615003
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259320380ORPHA123029106615003
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0001263HP:0001263Global developmental delay0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0001263HP:0001263Global developmental delay0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0001263HP:0001263Global developmental delay0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM11902731191311
HP:0001263HP:0001263Global developmental delay0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12252731191311
HP:0001263HP:0001263Global developmental delay0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11232736601150
HP:0001263HP:0001263Global developmental delay0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11262736601150
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM117914677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM131114677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM117914677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM131114677602635
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0001263HP:0001263Global developmental delay0DHDDS CL E G H79947442835ORPHA119920603608172
HP:0001263HP:0001263Global developmental delay0DHDDS CL E G H79947442835ORPHA125620603608172
HP:0001263HP:0001263Global developmental delay0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM12772861126060
HP:0001263HP:0001263Global developmental delay0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM13432861126060
HP:0001263HP:0001263Global developmental delay0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM121823537614984
HP:0001263HP:0001263Global developmental delay0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM133723537614984
HP:0001263HP:0001263Global developmental delay0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0001263HP:0001263Global developmental delay0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H1295632849ORPHA1124928648614184
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H1295632849ORPHA1150528648614184
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1124928648614184
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1150528648614184
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17363322ORPHA13962890300126
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17363322ORPHA14262890300126
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0001263HP:0001263Global developmental delay0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0001263HP:0001263Global developmental delay0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0001263HP:0001263Global developmental delay0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0001263HP:0001263Global developmental delay0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0001263HP:0001263Global developmental delay0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12412902300189
HP:0001263HP:0001263Global developmental delay0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12512902300189
HP:0001263HP:0001263Global developmental delay0DMD CL E G H175698896ORPHA156012928300377
HP:0001263HP:0001263Global developmental delay0DMD CL E G H175698896ORPHA163952928300377
HP:0001263HP:0001263Global developmental delay0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0001263HP:0001263Global developmental delay0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0001263HP:0001263Global developmental delay0DNM1 CL E G H1759442835ORPHA14592972602377
HP:0001263HP:0001263Global developmental delay0DNM1 CL E G H1759442835ORPHA15062972602377
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM12632973603850
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM13322973603850
HP:0001263HP:0001263Global developmental delay0DNMT3B CL E G H17892268ORPHA13392979602900
HP:0001263HP:0001263Global developmental delay0DNMT3B CL E G H17892268ORPHA14022979602900
HP:0001263HP:0001263Global developmental delay0DOCK3 CL E G H1795618292618292618292OMIM1432989603123
HP:0001263HP:0001263Global developmental delay0DOCK3 CL E G H1795618292618292618292OMIM1462989603123
HP:0001263HP:0001263Global developmental delay0DOCK6 CL E G H57572614219</