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 achalasia231550C0271742OMIM118713666605378
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 deficiency613163C0342708OMIM160523137150
HP:0001263HP:0001263Global developmental delay0ABCB7 CL E G H222802ORPHA124748300135
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399885ORPHA1156959600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H683399886ORPHA1156959600509
HP:0001263HP:0001263Global developmental delay0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0001263HP:0001263Global developmental delay0ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0001263HP:0001263Global developmental delay0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM163589607008
HP:0001263HP:0001263Global developmental delay0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0001263HP:0001263Global developmental delay0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM130191600301
HP:0001263HP:0001263Global developmental delay0ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13594100678
HP:0001263HP:0001263Global developmental delay0ACD CL E G H650573322ORPHA183425070609377
HP:0001263HP:0001263Global developmental delay0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM183425070609377
HP:0001263HP:0001263Global developmental delay0ACOX1 CL E G H512971ORPHA1517119609751
HP:0001263HP:0001263Global developmental delay0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM182120601641
HP:0001263HP:0001263Global developmental delay0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM169727288614245
HP:0001263HP:0001263Global developmental delay0ACTA1 CL E G H5897240ORPHA1392129102610
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H6079107ORPHA1406132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1406132102630
HP:0001263HP:0001263Global developmental delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0001263HP:0001263Global developmental delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0001263HP:0001263Global developmental delay0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001263HP:0001263Global developmental delay0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124714631612277
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H10351ORPHA1818225146920
HP:0001263HP:0001263Global developmental delay0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1818225146920
HP:0001263HP:0001263Global developmental delay0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0001263HP:0001263Global developmental delay0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM190257102750
HP:0001263HP:0001263Global developmental delay0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM135615766611386
HP:0001263HP:0001263Global developmental delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001263HP:0001263Global developmental delay0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM121517869604417
HP:0001263HP:0001263Global developmental delay0AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H19188618ORPHA1145343180960
HP:0001263HP:0001263Global developmental delay0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1145343180960
HP:0001263HP:0001263Global developmental delay0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM145525230615790
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806220493ORPHA192221575608894
HP:0001263HP:0001263Global developmental delay0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA192221575608894
HP:0001263HP:0001263Global developmental delay0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0001263HP:0001263Global developmental delay0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0001263HP:0001263Global developmental delay0AKT1 CL E G H207201ORPHA1634391164730
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H583235664ORPHA14379722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM14379722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM14379722138250
HP:0001263HP:0001263Global developmental delay0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1597408610045
HP:0001263HP:0001263Global developmental delay0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001263HP:0001263Global developmental delay0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11577179603178
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0001263HP:0001263Global developmental delay0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1761877107323
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H5605279327ORPHA149518294605907
HP:0001263HP:0001263Global developmental delay0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001263HP:0001263Global developmental delay0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM119632456613666
HP:0001263HP:0001263Global developmental delay0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM146419358607144
HP:0001263HP:0001263Global developmental delay0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM180330881300776
HP:0001263HP:0001263Global developmental delay0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM126223159607905
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H1019579321ORPHA117923056608750
HP:0001263HP:0001263Global developmental delay0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H2992979320ORPHA150523157604566
HP:0001263HP:0001263Global developmental delay0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM150523157604566
HP:0001263HP:0001263Global developmental delay0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001263HP:0001263Global developmental delay0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0001263HP:0001263Global developmental delay0ALX4 CL E G H6052952022ORPHA1251450605420
HP:0001263HP:0001263Global developmental delay0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001263HP:0001263Global developmental delay0ANK1 CL E G H286251066ORPHA1642492612641
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H231412512ORPHA119129101616062
HP:0001263HP:0001263Global developmental delay0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM119129101616062
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0001263HP:0001263Global developmental delay0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0001263HP:0001263Global developmental delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM161559603531
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585329ORPHA1218560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H890585335ORPHA1218560300629
HP:0001263HP:0001263Global developmental delay0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120442835ORPHA1437567602166
HP:0001263HP:0001263Global developmental delay0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1437567602166
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001263HP:0001263Global developmental delay0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001263HP:0001263Global developmental delay0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001263HP:0001263Global developmental delay0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001263HP:0001263Global developmental delay0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001263HP:0001263Global developmental delay0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM181022197613653
HP:0001263HP:0001263Global developmental delay0APC2 CL E G H10297821ORPHA123524036612034
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334436271ORPHA115220492616003
HP:0001263HP:0001263Global developmental delay0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0001263HP:0001263Global developmental delay0APP CL E G H351324703ORPHA1404620104760
HP:0001263HP:0001263Global developmental delay0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM148315853605371
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H38390ORPHA1357663608313
HP:0001263HP:0001263Global developmental delay0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1357663608313
HP:0001263HP:0001263Global developmental delay0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM124329216610911
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H82891465ORPHA154511110603024
HP:0001263HP:0001263Global developmental delay0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM154511110603024
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H574921465ORPHA1120618040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492251056ORPHA1120618040614556
HP:0001263HP:0001263Global developmental delay0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0001263HP:0001263Global developmental delay0ARID2 CL E G H1965281465ORPHA122718037609539
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA126425419608922
HP:0001263HP:0001263Global developmental delay0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM126425419608922
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1106694604695
HP:0001263HP:0001263Global developmental delay0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1106694604695
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA146820730617612
HP:0001263HP:0001263Global developmental delay0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM146820730617612
HP:0001263HP:0001263Global developmental delay0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001263HP:0001263Global developmental delay0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801442835ORPHA17129561611647
HP:0001263HP:0001263Global developmental delay0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001263HP:0001263Global developmental delay0ARVCF CL E G H421567ORPHA1541728602269
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302452ORPHA167918060300382
HP:0001263HP:0001263Global developmental delay0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001263HP:0001263Global developmental delay0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM124219088607999
HP:0001263HP:0001263Global developmental delay0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1554746608310
HP:0001263HP:0001263Global developmental delay0ASPA CL E G H443314911ORPHA1319756608034
HP:0001263HP:0001263Global developmental delay0ASPM CL E G H2592662512ORPHA1120619048605481
HP:0001263HP:0001263Global developmental delay0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1571758603470
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H17102397297ORPHA150318318612990
HP:0001263HP:0001263Global developmental delay0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001263HP:0001263Global developmental delay0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0001263HP:0001263Global developmental delay0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210496790ORPHA129225567612316
HP:0001263HP:0001263Global developmental delay0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H8530094122ORPHA1178779608179
HP:0001263HP:0001263Global developmental delay0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1178779608179
HP:0001263HP:0001263Global developmental delay0ATG5 CL E G H9474617584SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25617584C4539808OMIM134589604261
HP:0001263HP:0001263Global developmental delay0ATP1A1 CL E G H476618314618314618314OMIM1272799182310
HP:0001263HP:0001263Global developmental delay0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1790801182350
HP:0001263HP:0001263Global developmental delay0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM162837603150
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0001263HP:0001263Global developmental delay0ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523442835ORPHA1123851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001263HP:0001263Global developmental delay0ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0001263HP:0001263Global developmental delay0ATP7A CL E G H538198ORPHA11283869300011
HP:0001263HP:0001263Global developmental delay0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0001263HP:0001263Global developmental delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11544886300032
HP:0001263HP:0001263Global developmental delay0ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001263HP:0001263Global developmental delay0AUH CL E G H54967046ORPHA1197890600529
HP:0001263HP:0001263Global developmental delay0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001263HP:0001263Global developmental delay0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0001263HP:0001263Global developmental delay0B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173709ORPHA126620207610308
HP:0001263HP:0001263Global developmental delay0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0001263HP:0001263Global developmental delay0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1158924137060
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0001263HP:0001263Global developmental delay0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1286930604327
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001263HP:0001263Global developmental delay0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM116615685605517
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA125324123614144
HP:0001263HP:0001263Global developmental delay0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM125324123614144
HP:0001263HP:0001263Global developmental delay0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001263HP:0001263Global developmental delay0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001263HP:0001263Global developmental delay0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM115413221606557
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001263HP:0001263Global developmental delay0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM133013222606558
HP:0001263HP:0001263Global developmental delay0BCR CL E G H613261330ORPHA12151014151410
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0001263HP:0001263Global developmental delay0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001263HP:0001263Global developmental delay0BMP2 CL E G H650261295ORPHA11281069112261
HP:0001263HP:0001263Global developmental delay0BMP4 CL E G H652139471ORPHA11431071112262
HP:0001263HP:0001263Global developmental delay0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0001263HP:0001263Global developmental delay0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17624415613183
HP:0001263HP:0001263Global developmental delay0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11913581601819
HP:0001263HP:0001263Global developmental delay0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001263HP:0001263Global developmental delay0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H67284ORPHA1134511100113705
HP:0001263HP:0001263Global developmental delay0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1134511100113705
HP:0001263HP:0001263Global developmental delay0BRCA2 CL E G H67584ORPHA1164381101600185
HP:0001263HP:0001263Global developmental delay0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM117611551604902
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H8399084ORPHA1452020473605882
HP:0001263HP:0001263Global developmental delay0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM1452020473605882
HP:0001263HP:0001263Global developmental delay0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM120914255602410
HP:0001263HP:0001263Global developmental delay0BTD CL E G H68679241ORPHA14561122609019
HP:0001263HP:0001263Global developmental delay0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14561122609019
HP:0001263HP:0001263Global developmental delay0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA17891148602452
HP:0001263HP:0001263Global developmental delay0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA112501149602860
HP:0001263HP:0001263Global developmental delay0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA12991151603719
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H1132461777ORPHA124829521615140
HP:0001263HP:0001263Global developmental delay0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM124829521615140
HP:0001263HP:0001263Global developmental delay0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001263HP:0001263Global developmental delay0CA2 CL E G H7602785ORPHA11421373611492
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773442835ORPHA126891388601011
HP:0001263HP:0001263Global developmental delay0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001263HP:0001263Global developmental delay0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM122351390114205
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776369929ORPHA110311391114206
HP:0001263HP:0001263Global developmental delay0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM110311391114206
HP:0001263HP:0001263Global developmental delay0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001263HP:0001263Global developmental delay0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM18791424114010
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1771460114078
HP:0001263HP:0001263Global developmental delay0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1771460114078
HP:0001263HP:0001263Global developmental delay0CAMKMT CL E G H79823163693ORPHA13426276609559
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0001263HP:0001263Global developmental delay0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0001263HP:0001263Global developmental delay0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM169725695612800
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM17061497300172
HP:0001263HP:0001263Global developmental delay0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM17061497300172
HP:0001263HP:0001263Global developmental delay0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM110561541165360
HP:0001263HP:0001263Global developmental delay0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0001263HP:0001263Global developmental delay0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM121730237610055
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H575452318ORPHA1117629253612013
HP:0001263HP:0001263Global developmental delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0001263HP:0001263Global developmental delay0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16128033616735
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125228909300859
HP:0001263HP:0001263Global developmental delay0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0001263HP:0001263Global developmental delay0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001263HP:0001263Global developmental delay0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11201583123833
HP:0001263HP:0001263Global developmental delay0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1381596603544
HP:0001263HP:0001263Global developmental delay0CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0001263HP:0001263Global developmental delay0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15671739603465
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H838792268ORPHA114514628609937
HP:0001263HP:0001263Global developmental delay0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM114514628609937
HP:0001263HP:0001263Global developmental delay0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1591750600023
HP:0001263HP:0001263Global developmental delay0CDH23 CL E G H64072231169ORPHA1360413733605516
HP:0001263HP:0001263Global developmental delay0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM11001770603464
HP:0001263HP:0001263Global developmental delay0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12521733603309
HP:0001263HP:0001263Global developmental delay0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H557552512ORPHA147718672608201
HP:0001263HP:0001263Global developmental delay0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM147718672608201
HP:0001263HP:0001263Global developmental delay0CDK6 CL E G H10212512ORPHA1491777603368
HP:0001263HP:0001263Global developmental delay0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1152711411300203
HP:0001263HP:0001263Global developmental delay0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM154517104608707
HP:0001263HP:0001263Global developmental delay0CENPJ CL E G H558352512ORPHA143817272609279
HP:0001263HP:0001263Global developmental delay0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA141124866616690
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241220493ORPHA130526690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA130526690613446
HP:0001263HP:0001263Global developmental delay0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM130526690613446
HP:0001263HP:0001263Global developmental delay0CEP135 CL E G H96622512ORPHA127729086611423
HP:0001263HP:0001263Global developmental delay0CEP152 CL E G H229952512ORPHA145029298613529
HP:0001263HP:0001263Global developmental delay0CEP164 CL E G H228973156ORPHA184329182614848
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801842318ORPHA1225129021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H801843156ORPHA1225129021610142
HP:0001263HP:0001263Global developmental delay0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM1225129021610142
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681220493ORPHA137512370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA137512370610523
HP:0001263HP:0001263Global developmental delay0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM137512370610523
HP:0001263HP:0001263Global developmental delay0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA131130794607951
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H802542512ORPHA121925815614724
HP:0001263HP:0001263Global developmental delay0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM121925815614724
HP:0001263HP:0001263Global developmental delay0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM121620311616327
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105529965ORPHA11061915602118
HP:0001263HP:0001263Global developmental delay0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM11061915602118
HP:0001263HP:0001263Global developmental delay0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0001263HP:0001263Global developmental delay0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM12101918602120
HP:0001263HP:0001263Global developmental delay0CHD7 CL E G H55636138ORPHA1231820626608892
HP:0001263HP:0001263Global developmental delay0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11888740164010
HP:0001263HP:0001263Global developmental delay0CHRNA7 CL E G H1139199318ORPHA13471960118511
HP:0001263HP:0001263Global developmental delay0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM121124464608429
HP:0001263HP:0001263Global developmental delay0CIB2 CL E G H10518231169ORPHA118224579605564
HP:0001263HP:0001263Global developmental delay0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM125814214612082
HP:0001263HP:0001263Global developmental delay0CIT CL E G H111132512ORPHA13431985605629
HP:0001263HP:0001263Global developmental delay0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13431985605629
HP:0001263HP:0001263Global developmental delay0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA111026877616174
HP:0001263HP:0001263Global developmental delay0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM15912022302910
HP:0001263HP:0001263Global developmental delay0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM12592063300138
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978411493ORPHA16116999608757
HP:0001263HP:0001263Global developmental delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM16116999608757
HP:0001263HP:0001263Global developmental delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213442835ORPHA13902092118955
HP:0001263HP:0001263Global developmental delay0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM13902092118955
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866442835ORPHA126419701300724
HP:0001263HP:0001263Global developmental delay0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM126419701300724
HP:0001263HP:0001263Global developmental delay0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1218103607803
HP:0001263HP:0001263Global developmental delay0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0001263HP:0001263Global developmental delay0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0001263HP:0001263Global developmental delay0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0001263HP:0001263Global developmental delay0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796435934ORPHA11776546606974
HP:0001263HP:0001263Global developmental delay0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11776546606974
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839263501ORPHA126218620606976
HP:0001263HP:0001263Global developmental delay0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM126218620606976
HP:0001263HP:0001263Global developmental delay0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM131518621606977
HP:0001263HP:0001263Global developmental delay0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0001263HP:0001263Global developmental delay0COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001263HP:0001263Global developmental delay0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM19922203120090
HP:0001263HP:0001263Global developmental delay0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0001263HP:0001263Global developmental delay0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0001263HP:0001263Global developmental delay0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM17017213612502
HP:0001263HP:0001263Global developmental delay0COLQ CL E G H829298915ORPHA14652226603033
HP:0001263HP:0001263Global developmental delay0COMT CL E G H1312567ORPHA15862228116790
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H92762512ORPHA1582232606990
HP:0001263HP:0001263Global developmental delay0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1582232606990
HP:0001263HP:0001263Global developmental delay0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11222244601683
HP:0001263HP:0001263Global developmental delay0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001263HP:0001263Global developmental delay0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13402252605000
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0001263HP:0001263Global developmental delay0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
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 H1355255241ORPHA12512263603646
HP:0001263HP:0001263Global developmental delay0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0001263HP:0001263Global developmental delay0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0001263HP:0001263Global developmental delay0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15516232607976
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 2300887C3550921OMIM11732291300885
HP:0001263HP:0001263Global developmental delay0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H652502754ORPHA1142625801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1142625801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM1142625801614571
HP:0001263HP:0001263Global developmental delay0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1142625801614571
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815352582ORPHA11672309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0001263HP:0001263Global developmental delay0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11672309605032
HP:0001263HP:0001263Global developmental delay0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM111522323608307
HP:0001263HP:0001263Global developmental delay0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM114230185609262
HP:0001263HP:0001263Global developmental delay0CRKL CL E G H1399261330ORPHA14142363602007
HP:0001263HP:0001263Global developmental delay0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11962457115440
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA179326193611654
HP:0001263HP:0001263Global developmental delay0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM179326193611654
HP:0001263HP:0001263Global developmental delay0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0001263HP:0001263Global developmental delay0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1104426169613129
HP:0001263HP:0001263Global developmental delay0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM123513723604167
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H915048431ORPHA13832498604927
HP:0001263HP:0001263Global developmental delay0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13832498604927
HP:0001263HP:0001263Global developmental delay0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0001263HP:0001263Global developmental delay0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM14682514116806
HP:0001263HP:0001263Global developmental delay0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0001263HP:0001263Global developmental delay0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM124410664617170
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H55280453521ORPHA16625613616120
HP:0001263HP:0001263Global developmental delay0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM16625613616120
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 reductase250800C0268193OMIM11512873613213
HP:0001263HP:0001263Global developmental delay0CYFIP2 CL E G H26999442835ORPHA141613760606323
HP:0001263HP:0001263Global developmental delay0CYP2U1 CL E G H113612320411ORPHA119520582610670
HP:0001263HP:0001263Global developmental delay0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM139428358609186
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605899ORPHA14962666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14962666128239
HP:0001263HP:0001263Global developmental delay0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14962666128239
HP:0001263HP:0001263Global developmental delay0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM11752701120470
HP:0001263HP:0001263Global developmental delay0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110629812610534
HP:0001263HP:0001263Global developmental delay0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13652719107930
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0001263HP:0001263Global developmental delay0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0001263HP:0001263Global developmental delay0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11872728602202
HP:0001263HP:0001263Global developmental delay0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12662731191311
HP:0001263HP:0001263Global developmental delay0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11382736601150
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0001263HP:0001263Global developmental delay0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM145214677602635
HP:0001263HP:0001263Global developmental delay0DHCR7 CL E G H1717818ORPHA16482860602858
HP:0001263HP:0001263Global developmental delay0DHDDS CL E G H79947442835ORPHA131820603608172
HP:0001263HP:0001263Global developmental delay0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM14932861126060
HP:0001263HP:0001263Global developmental delay0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM142823537614984
HP:0001263HP:0001263Global developmental delay0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM17416716616423
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0001263HP:0001263Global developmental delay0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17363322ORPHA14772890300126
HP:0001263HP:0001263Global developmental delay0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14772890300126
HP:0001263HP:0001263Global developmental delay0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0001263HP:0001263Global developmental delay0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM14222898238331
HP:0001263HP:0001263Global developmental delay0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12672902300189
HP:0001263HP:0001263Global developmental delay0DMD CL E G H175698896ORPHA173702928300377
HP:0001263HP:0001263Global developmental delay0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM13312939601810
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218811Balo diseaseORPHA123627030617048
HP:0001263HP:0001263Global developmental delay0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM123627030617048
HP:0001263HP:0001263Global developmental delay0DNM1 CL E G H1759442835ORPHA16222972602377
HP:0001263HP:0001263Global developmental delay0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0001263HP:0001263Global developmental delay0DNMT3B CL E G H17892268ORPHA14632979602900
HP:0001263HP:0001263Global developmental delay0DOCK3 CL E G H1795618292618292618292OMIM1502989603123
HP:0001263HP:0001263Global developmental delay0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM156119189614194
HP:0001263HP:0001263Global developmental delay0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1118419190615730
HP:0001263HP:0001263Global developmental delay0DPAGT1 CL E G H179886309ORPHA12582995191350
HP:0001263HP:0001263Global developmental delay0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001263HP:0001263Global developmental delay0DPF2 CL E G H59771465ORPHA1739964601671
HP:0001263HP:0001263Global developmental delay0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1739964601671
HP:0001263HP:0001263Global developmental delay0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11063003603527
HP:0001263HP:0001263Global developmental delay0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11383006603564
HP:0001263HP:0001263Global developmental delay0DPYD CL E G H1806293948ORPHA13793012612779
HP:0001263HP:0001263Global developmental delay0DUOX2 CL E G H5050695716ORPHA183213273606759
HP:0001263HP:0001263Global developmental delay0DUOXA2 CL E G H40575395716ORPHA17332698612772
HP:0001263HP:0001263Global developmental delay0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM14923084601365
HP:0001263HP:0001263Global developmental delay0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM11893087601368
HP:0001263HP:0001263Global developmental delay0DYM CL E G H54808239ORPHA126021317607461
HP:0001263HP:0001263Global developmental delay0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0001263HP:0001263Global developmental delay0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0001263HP:0001263Global developmental delay0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001263HP:0001263Global developmental delay0ECHS1 CL E G H1892255241ORPHA13653151602292
HP:0001263HP:0001263Global developmental delay0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM13653151602292
HP:0001263HP:0001263Global developmental delay0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12743180131244
HP:0001263HP:0001263Global developmental delay0EED CL E G H87263447ORPHA1973188605984
HP:0001263HP:0001263Global developmental delay0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1973188605984
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H1917442835ORPHA14933192602959
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0001263HP:0001263Global developmental delay0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM14933192602959
HP:0001263HP:0001263Global developmental delay0EFL1 CL E G H79631811Balo diseaseORPHA125125789617538
HP:0001263HP:0001263Global developmental delay0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12143226300035
HP:0001263HP:0001263Global developmental delay0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM136330858603892
HP:0001263HP:0001263Global developmental delay0EHMT1 CL E G H7981396147ORPHA1157024650607001
HP:0001263HP:0001263Global developmental delay0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001263HP:0001263Global developmental delay0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13818683608546
HP:0001263HP:0001263Global developmental delay0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM165814198605367
HP:0001263HP:0001263Global developmental delay0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM124214415605512
HP:0001263HP:0001263Global developmental delay0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11143330602033
HP:0001263HP:0001263Global developmental delay0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0001263HP:0001263Global developmental delay0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0001263HP:0001263Global developmental delay0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1121329331615068
HP:0001263HP:0001263Global developmental delay0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001263HP:0001263Global developmental delay0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H2068220295ORPHA111963434126340
HP:0001263HP:0001263Global developmental delay0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM111963434126340
HP:0001263HP:0001263Global developmental delay0ERCC3 CL E G H2071220295ORPHA13683435133510
HP:0001263HP:0001263Global developmental delay0ERCC4 CL E G H207284ORPHA16023436133520
HP:0001263HP:0001263Global developmental delay0ERCC4 CL E G H2072220295ORPHA16023436133520
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H2073220295ORPHA14253437133530
HP:0001263HP:0001263Global developmental delay0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM14253437133530
HP:0001263HP:0001263Global developmental delay0ERMARD CL E G H5578075857ORPHA123821056615532
HP:0001263HP:0001263Global developmental delay0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM123821056615532
HP:0001263HP:0001263Global developmental delay0ESCO2 CL E G H1575703103ORPHA143527230609353
HP:0001263HP:0001263Global developmental delay0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM143527230609353
HP:0001263HP:0001263Global developmental delay0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM127923287608451
HP:0001263HP:0001263Global developmental delay0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0001263HP:0001263Global developmental delay0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM18517035606019
HP:0001263HP:0001263Global developmental delay0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001263HP:0001263Global developmental delay0EXT2 CL E G H213252022ORPHA15323513608210
HP:0001263HP:0001263Global developmental delay0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM15323513608210
HP:0001263HP:0001263Global developmental delay0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001263HP:0001263Global developmental delay0EZH2 CL E G H21463447ORPHA14163527601573
HP:0001263HP:0001263Global developmental delay0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001263HP:0001263Global developmental delay0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM19224725615292
HP:0001263HP:0001263Global developmental delay0FAM126A CL E G H8466885163ORPHA124587610531
HP:0001263HP:0001263Global developmental delay0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001263HP:0001263Global developmental delay0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM135022140611061
HP:0001263HP:0001263Global developmental delay0FANCA CL E G H217584ORPHA136973582607139
HP:0001263HP:0001263Global developmental delay0FANCB CL E G H218784ORPHA15163583300515
HP:0001263HP:0001263Global developmental delay0FANCC CL E G H217684ORPHA115423584613899
HP:0001263HP:0001263Global developmental delay0FANCD2 CL E G H217784ORPHA110413585613984
HP:0001263HP:0001263Global developmental delay0FANCE CL E G H217884ORPHA14243586613976
HP:0001263HP:0001263Global developmental delay0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM14243586613976
HP:0001263HP:0001263Global developmental delay0FANCF CL E G H218884ORPHA13533587613897
HP:0001263HP:0001263Global developmental delay0FANCG CL E G H218984ORPHA16343588602956
HP:0001263HP:0001263Global developmental delay0FANCI CL E G H5521584ORPHA1121225568611360
HP:0001263HP:0001263Global developmental delay0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM1121225568611360
HP:0001263HP:0001263Global developmental delay0FANCL CL E G H5512084ORPHA142720748608111
HP:0001263HP:0001263Global developmental delay0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM142720748608111
HP:0001263HP:0001263Global developmental delay0FANCM CL E G H5769784ORPHA1163323168609644
HP:0001263HP:0001263Global developmental delay0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM119726222616107
HP:0001263HP:0001263Global developmental delay0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0001263HP:0001263Global developmental delay0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0001263HP:0001263Global developmental delay0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM149013601605654
HP:0001263HP:0001263Global developmental delay0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM153013590607871
HP:0001263HP:0001263Global developmental delay0FGF12 CL E G H2257442835ORPHA12103668601513
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H22602396ORPHA16883688136350
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM16883688136350
HP:0001263HP:0001263Global developmental delay0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM16883688136350
HP:0001263HP:0001263Global developmental delay0FGFR2 CL E G H226393259ORPHA15673689176943
HP:0001263HP:0001263Global developmental delay0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15673689176943
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM17463690134934
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM17463690134934
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0001263HP:0001263Global developmental delay0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM17463690134934
HP:0001263HP:0001263Global developmental delay0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0001263HP:0001263Global developmental delay0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM115943700136850
HP:0001263HP:0001263Global developmental delay0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM1373705608296
HP:0001263HP:0001263Global developmental delay0FIG4 CL E G H98963472MeningococcemiaORPHA174916873609390
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H79147899ORPHA178717997606596
HP:0001263HP:0001263Global developmental delay0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM178717997606596
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H2218899ORPHA17833622607440
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17833622607440
HP:0001263HP:0001263Global developmental delay0FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0001263HP:0001263Global developmental delay0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0001263HP:0001263Global developmental delay0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11783749193067
HP:0001263HP:0001263Global developmental delay0FLII CL E G H2314819ORPHA11543750600362
HP:0001263HP:0001263Global developmental delay0FLNA CL E G H231690652ORPHA125383754300017
HP:0001263HP:0001263Global developmental delay0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM114120105610865
HP:0001263HP:0001263Global developmental delay0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM121814074606373
HP:0001263HP:0001263Global developmental delay0FMR1 CL E G H2332261483ORPHA13383775309550
HP:0001263HP:0001263Global developmental delay0FOXE1 CL E G H230495713ORPHA1713806602617
HP:0001263HP:0001263Global developmental delay0FOXRED1 CL E G H55572255241ORPHA125526927613622
HP:0001263HP:0001263Global developmental delay0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM125526927613622
HP:0001263HP:0001263Global developmental delay0FRA16E CL E G H2464136570Chromosome 16p12.1 deletion syndrome, 520-kb136570C3149276OMIM138610
HP:0001263HP:0001263Global developmental delay0FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001263HP:0001263Global developmental delay0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001263HP:0001263Global developmental delay0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM135229007300838
HP:0001263HP:0001263Global developmental delay0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM13411362604574
HP:0001263HP:0001263Global developmental delay0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001263HP:0001263Global developmental delay0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0001263HP:0001263Global developmental delay0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0001263HP:0001263Global developmental delay0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1794019602589
HP:0001263HP:0001263Global developmental delay0GABRA1 CL E G H2554615744Epileptic encephalopathy, early infantile, 19615744C3810400OMIM15194075137160
HP:0001263HP:0001263Global developmental delay0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM11734081137190
HP:0001263HP:0001263Global developmental delay0GABRB2 CL E G H2561442835ORPHA14214082600232
HP:0001263HP:0001263Global developmental delay0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0001263HP:0001263Global developmental delay0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0001263HP:0001263Global developmental delay0GABRD CL E G H25631606ORPHA13974084137163
HP:0001263HP:0001263Global developmental delay0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11894092605363
HP:0001263HP:0001263Global developmental delay0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0001263HP:0001263Global developmental delay0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001263HP:0001263Global developmental delay0GATA4 CL E G H2626251071ORPHA16304173600576
HP:0001263HP:0001263Global developmental delay0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM13784174601656
HP:0001263HP:0001263Global developmental delay0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM13594175602360
HP:0001263HP:0001263Global developmental delay0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001263HP:0001263Global developmental delay0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13644193600225
HP:0001263HP:0001263Global developmental delay0GCK CL E G H264599885ORPHA17624195138079
HP:0001263HP:0001263Global developmental delay0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0001263HP:0001263Global developmental delay0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM12794226300104
HP:0001263HP:0001263Global developmental delay0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM115215717606969
HP:0001263HP:0001263Global developmental delay0GFER CL E G H2671330054ORPHA11354236600924
HP:0001263HP:0001263Global developmental delay0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM11354236600924
HP:0001263HP:0001263Global developmental delay0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0001263HP:0001263Global developmental delay0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0001263HP:0001263Global developmental delay0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM16004318165230
HP:0001263HP:0001263Global developmental delay0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM159328510610192
HP:0001263HP:0001263Global developmental delay0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM18124247610516
HP:0001263HP:0001263Global developmental delay0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001263HP:0001263Global developmental delay0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM111822923615495
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H29925363623ORPHA127322932615320
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM127322932615320
HP:0001263HP:0001263Global developmental delay0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001263HP:0001263Global developmental delay0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM13584389139311
HP:0001263HP:0001263Global developmental delay0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0001263HP:0001263Global developmental delay0GNB1 CL E G H2782488613ORPHA13104396139380
HP:0001263HP:0001263Global developmental delay0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0001263HP:0001263Global developmental delay0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11404401604447
HP:0001263HP:0001263Global developmental delay0GNE CL E G H10020269921Sialuria269921C0342853OMIM178323657603824
HP:0001263HP:0001263Global developmental delay0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1100329670607840
HP:0001263HP:0001263Global developmental delay0GP1BB CL E G H2812567ORPHA14494440138720
HP:0001263HP:0001263Global developmental delay0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0001263HP:0001263Global developmental delay0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM198215465603930
HP:0001263HP:0001263Global developmental delay0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1404539607468
HP:0001263HP:0001263Global developmental delay0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA18618062138210
HP:0001263HP:0001263Global developmental delay0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM18618062138210
HP:0001263HP:0001263Global developmental delay0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1634574138246
HP:0001263HP:0001263Global developmental delay0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11584576602368
HP:0001263HP:0001263Global developmental delay0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM11234580138244
HP:0001263HP:0001263Global developmental delay0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM17354584138249
HP:0001263HP:0001263Global developmental delay0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0001263HP:0001263Global developmental delay0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0001263HP:0001263Global developmental delay0GRIN2D CL E G H2906442835ORPHA15194588602717
HP:0001263HP:0001263Global developmental delay0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001263HP:0001263Global developmental delay0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12164593604473
HP:0001263HP:0001263Global developmental delay0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0001263HP:0001263Global developmental delay0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM134214880608536
HP:0001263HP:0001263Global developmental delay0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM1584713103280
HP:0001263HP:0001263Global developmental delay0HACE1 CL E G H57531464282ORPHA110721033610876
HP:0001263HP:0001263Global developmental delay0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM110721033610876
HP:0001263HP:0001263Global developmental delay0HADHA CL E G H30305ORPHA16304801600890
HP:0001263HP:0001263Global developmental delay0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM16304801600890
HP:0001263HP:0001263Global developmental delay0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12634803143450
HP:0001263HP:0001263Global developmental delay0HCN1 CL E G H348980442835ORPHA16354845602780
HP:0001263HP:0001263Global developmental delay0HDAC4 CL E G H97591001Branchial arch defectsORPHA142714063605314
HP:0001263HP:0001263Global developmental delay0HDAC8 CL E G H558693459ORPHA132213315300269
HP:0001263HP:0001263Global developmental delay0HELLS CL E G H30702268ORPHA11944861603946
HP:0001263HP:0001263Global developmental delay0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0001263HP:0001263Global developmental delay0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0001263HP:0001263Global developmental delay0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H8820226307ORPHA1764877601802
HP:0001263HP:0001263Global developmental delay0HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM1764877601802
HP:0001263HP:0001263Global developmental delay0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11714908610690
HP:0001263HP:0001263Global developmental delay0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM15226938614908
HP:0001263HP:0001263Global developmental delay0HIRA CL E G H7290567ORPHA14354916600237
HP:0001263HP:0001263Global developmental delay0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001263HP:0001263Global developmental delay0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12824921143054
HP:0001263HP:0001263Global developmental delay0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001263HP:0001263Global developmental delay0HMGA2 CL E G H809194063ORPHA1275009600698
HP:0001263HP:0001263Global developmental delay0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11845004300193
HP:0001263HP:0001263Global developmental delay0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1425028605238
HP:0001263HP:0001263Global developmental delay0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001263HP:0001263Global developmental delay0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11295044600712
HP:0001263HP:0001263Global developmental delay0HNRNPU CL E G H3192238769ORPHA16925048602869
HP:0001263HP:0001263Global developmental delay0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0001263HP:0001263Global developmental delay0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0001263HP:0001263Global developmental delay0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12224800300256
HP:0001263HP:0001263Global developmental delay0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0001263HP:0001263Global developmental delay0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12075261118190
HP:0001263HP:0001263Global developmental delay0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0001263HP:0001263Global developmental delay0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA122926558610693
HP:0001263HP:0001263Global developmental delay0HYMAI CL E G H5706199886ORPHA1175326606546
HP:0001263HP:0001263Global developmental delay0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM15330600709
HP:0001263HP:0001263Global developmental delay0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM11845383147650
HP:0001263HP:0001263Global developmental delay0IDUA CL E G H342593473ORPHA113135391252800
HP:0001263HP:0001263Global developmental delay0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001263HP:0001263Global developmental delay0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0001263HP:0001263Global developmental delay0IFIH1 CL E G H6413551ORPHA189218873606951
HP:0001263HP:0001263Global developmental delay0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM189218873606951
HP:0001263HP:0001263Global developmental delay0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0001263HP:0001263Global developmental delay0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM1985466147470
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H56623220493ORPHA162021474613037
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA162021474613037
HP:0001263HP:0001263Global developmental delay0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM162021474613037
HP:0001263HP:0001263Global developmental delay0INPP5K CL E G H51763559ORPHA115733882607875
HP:0001263HP:0001263Global developmental delay0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115733882607875
HP:0001263HP:0001263Global developmental delay0INS CL E G H363099885ORPHA11686081176730
HP:0001263HP:0001263Global developmental delay0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0001263HP:0001263Global developmental delay0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0001263HP:0001263Global developmental delay0INVS CL E G H271303156ORPHA158117870243305
HP:0001263HP:0001263Global developmental delay0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0001263HP:0001263Global developmental delay0IQCB1 CL E G H96573156ORPHA138728949609237
HP:0001263HP:0001263Global developmental delay0IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001263HP:0001263Global developmental delay0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0001263HP:0001263Global developmental delay0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM14428660611006
HP:0001263HP:0001263Global developmental delay0ISPD CL E G H729920899ORPHA164737276614631
HP:0001263HP:0001263Global developmental delay0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM126213890606409
HP:0001263HP:0001263Global developmental delay0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA111346180147265
HP:0001263HP:0001263Global developmental delay0IVD CL E G H371233ORPHA14926186607036
HP:0001263HP:0001263Global developmental delay0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM14926186607036
HP:0001263HP:0001263Global developmental delay0IYD CL E G H38943495716ORPHA16521071612025
HP:0001263HP:0001263Global developmental delay0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM120115532606871
HP:0001263HP:0001263Global developmental delay0JMJD1C CL E G H221037567ORPHA197112313604503
HP:0001263HP:0001263Global developmental delay0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0001263HP:0001263Global developmental delay0KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001263HP:0001263Global developmental delay0KAT6A CL E G H7994457193ORPHA154513013601408
HP:0001263HP:0001263Global developmental delay0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM154513013601408
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H235223047ORPHA160517582605880
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H2352285201ORPHA160517582605880
HP:0001263HP:0001263Global developmental delay0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM160517582605880
HP:0001263HP:0001263Global developmental delay0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11886217602703
HP:0001263HP:0001263Global developmental delay0KCNA2 CL E G H3737442835ORPHA13256220176262
HP:0001263HP:0001263Global developmental delay0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0001263HP:0001263Global developmental delay0KCNB1 CL E G H3745442835ORPHA15186231600397
HP:0001263HP:0001263Global developmental delay0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM15186231600397
HP:0001263HP:0001263Global developmental delay0KCNC3 CL E G H374898768ORPHA12166235176264
HP:0001263HP:0001263Global developmental delay0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM14136250603305
HP:0001263HP:0001263Global developmental delay0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM12136255600359
HP:0001263HP:0001263Global developmental delay0KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0001263HP:0001263Global developmental delay0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13356256602208
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H376799885ORPHA13806257600937
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H376799886ORPHA13806257600937
HP:0001263HP:0001263Global developmental delay0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0001263HP:0001263Global developmental delay0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0001263HP:0001263Global developmental delay0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM116896296602235
HP:0001263HP:0001263Global developmental delay0KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM13266299607357
HP:0001263HP:0001263Global developmental delay0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM18318866610044
HP:0001263HP:0001263Global developmental delay0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM113318039605393
HP:0001263HP:0001263Global developmental delay0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001263HP:0001263Global developmental delay0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001263HP:0001263Global developmental delay0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM129068616650
HP:0001263HP:0001263Global developmental delay0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA182819960610178
HP:0001263HP:0001263Global developmental delay0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM182819960610178
HP:0001263HP:0001263Global developmental delay0KIAA0753 CL E G H98512754ORPHA121729110617112
HP:0001263HP:0001263Global developmental delay0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0001263HP:0001263Global developmental delay0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM131129508615759
HP:0001263HP:0001263Global developmental delay0KIF11 CL E G H38322526ORPHA16056388148760
HP:0001263HP:0001263Global developmental delay0KIF14 CL E G H99282512ORPHA117619181611279
HP:0001263HP:0001263Global developmental delay0KIF1A CL E G H5472836ORPHA12132888601255
HP:0001263HP:0001263Global developmental delay0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12132888601255
HP:0001263HP:0001263Global developmental delay0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM123419609367
HP:0001263HP:0001263Global developmental delay0KIF22 CL E G H383593360ORPHA14116391603213
HP:0001263HP:0001263Global developmental delay0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM13196318602591
HP:0001263HP:0001263Global developmental delay0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM11856325604593
HP:0001263HP:0001263Global developmental delay0KIF7 CL E G H3746542754ORPHA197730497611254
HP:0001263HP:0001263Global developmental delay0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM118129347300980
HP:0001263HP:0001263Global developmental delay0KLHL7 CL E G H5597597297ORPHA125815646611119
HP:0001263HP:0001263Global developmental delay0KLLN CL E G H100144748201ORPHA131637212612105
HP:0001263HP:0001263Global developmental delay0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM113177132159555
HP:0001263HP:0001263Global developmental delay0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM185113726606833
HP:0001263HP:0001263Global developmental delay0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001263HP:0001263Global developmental delay0KMT5B CL E G H51111617788MENTAL RETARDATION, AUTOSOMAL DOMINANT 51617788C4540474OMIM111024283610881
HP:0001263HP:0001263Global developmental delay0KNL1 CL E G H570822512ORPHA131924054609173
HP:0001263HP:0001263Global developmental delay0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM11176404615620
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38452396ORPHA14406407190070
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM14406407190070
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0001263HP:0001263Global developmental delay0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM14406407190070
HP:0001263HP:0001263Global developmental delay0KYNU CL E G H894279155ORPHA1626469605197
HP:0001263HP:0001263Global developmental delay0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001263HP:0001263Global developmental delay0LAGE3 CL E G H82702065ORPHA123326058300060
HP:0001263HP:0001263Global developmental delay0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123326058300060
HP:0001263HP:0001263Global developmental delay0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0001263HP:0001263Global developmental delay0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0001263HP:0001263Global developmental delay0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16586511603590
HP:0001263HP:0001263Global developmental delay0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM116224912612026
HP:0001263HP:0001263Global developmental delay0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0001263HP:0001263Global developmental delay0LAS1L CL E G H818873459ORPHA124325726300964
HP:0001263HP:0001263Global developmental delay0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0001263HP:0001263Global developmental delay0LBR CL E G H3930169400Pelger-Hu√ęt anomaly169400C0030779OMIM12856518600024
HP:0001263HP:0001263Global developmental delay0LEMD3 CL E G H2359294063ORPHA129928887607844
HP:0001263HP:0001263Global developmental delay0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0001263HP:0001263Global developmental delay0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0001263HP:0001263Global developmental delay0LHX3 CL E G H8022226307ORPHA13796595600577
HP:0001263HP:0001263Global developmental delay0LHX4 CL E G H89884226307ORPHA114421734602146
HP:0001263HP:0001263Global developmental delay0LIG4 CL E G H398199812ORPHA15106601601837
HP:0001263HP:0001263Global developmental delay0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM15106601601837
HP:0001263HP:0001263Global developmental delay0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM14121205609791
HP:0001263HP:0001263Global developmental delay0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM125530922610350
HP:0001263HP:0001263Global developmental delay0LIPA CL E G H398875233ORPHA14616617613497
HP:0001263HP:0001263Global developmental delay0LIPT1 CL E G H51601255241ORPHA19829569610284
HP:0001263HP:0001263Global developmental delay0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19829569610284
HP:0001263HP:0001263Global developmental delay0LMAN2L CL E G H81562616887Mental retardation, autosomal recessive 52616887C4225168OMIM17319263609552
HP:0001263HP:0001263Global developmental delay0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM121623038612625
HP:0001263HP:0001263Global developmental delay0LMNA CL E G H4000157973ORPHA116226636150330
HP:0001263HP:0001263Global developmental delay0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM14666638150341
HP:0001263HP:0001263Global developmental delay0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14421610610236
HP:0001263HP:0001263Global developmental delay0LONP1 CL E G H93611458ORPHA15019479605490
HP:0001263HP:0001263Global developmental delay0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM15019479605490
HP:0001263HP:0001263Global developmental delay0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA121056694600073
HP:0001263HP:0001263Global developmental delay0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001263HP:0001263Global developmental delay0LTBP4 CL E G H842598896ORPHA15406717604710
HP:0001263HP:0001263Global developmental delay0LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1476719246530
HP:0001263HP:0001263Global developmental delay0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM17728072615831
HP:0001263HP:0001263Global developmental delay0LYST CL E G H1130167ORPHA117541968606897
HP:0001263HP:0001263Global developmental delay0LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11106741606568
HP:0001263HP:0001263Global developmental delay0MAD2L2 CL E G H1045984ORPHA1576764604094
HP:0001263HP:0001263Global developmental delay0MAG CL E G H4099459056ORPHA11716783159460
HP:0001263HP:0001263Global developmental delay0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11716783159460
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0001263HP:0001263Global developmental delay0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0001263HP:0001263Global developmental delay0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM13986823604346
HP:0001263HP:0001263Global developmental delay0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0001263HP:0001263Global developmental delay0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13986840176872
HP:0001263HP:0001263Global developmental delay0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0001263HP:0001263Global developmental delay0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM15996842601263
HP:0001263HP:0001263Global developmental delay0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0001263HP:0001263Global developmental delay0MAPK1 CL E G H5594261330