Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental delay (HP:0012758)help
Parent Node:
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Global developmental delay (HP:0001263)help
..Starting node
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Severe global developmental delay (HP:0011344)help
Term ID: 11344
Name: Severe global developmental delay
Synonym: Global developmental delay, severe; Severe psychomotor retardation
Definition: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Comments:
Reference: HP:0011344
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMild global developmental delay (HP:0011342) help
..expandModerate global developmental delay (HP:0011343) help
..expandProfound global developmental delay (HP:0012736) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011344HP:0011344Severe global developmental delay0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0011344HP:0011344Severe global developmental delay0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0011344HP:0011344Severe global developmental delay0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0011344HP:0011344Severe global developmental delay0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0011344HP:0011344Severe global developmental delay0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0011344HP:0011344Severe global developmental delay0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0011344HP:0011344Severe global developmental delay0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0011344HP:0011344Severe global developmental delay0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0011344HP:0011344Severe global developmental delay0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0011344HP:0011344Severe global developmental delay0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0011344HP:0011344Severe global developmental delay0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0011344HP:0011344Severe global developmental delay0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0011344HP:0011344Severe global developmental delay0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0011344HP:0011344Severe global developmental delay0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0011344HP:0011344Severe global developmental delay0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0011344HP:0011344Severe global developmental delay0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0011344HP:0011344Severe global developmental delay0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0011344HP:0011344Severe global developmental delay0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0011344HP:0011344Severe global developmental delay0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0011344HP:0011344Severe global developmental delay0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0011344HP:0011344Severe global developmental delay0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0011344HP:0011344Severe global developmental delay0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0011344HP:0011344Severe global developmental delay0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0011344HP:0011344Severe global developmental delay0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0011344HP:0011344Severe global developmental delay0C18ORF32 CL E G H49766131690OMIM:619985
HP:0011344HP:0011344Severe global developmental delay0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040281 - Very frequent118
HP:0011344HP:0011344Severe global developmental delay0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0011344HP:0011344Severe global developmental delay0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0011344HP:0011344Severe global developmental delay0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0011344HP:0011344Severe global developmental delay0CHKA CL E G H11191937OMIM:620023
HP:0011344HP:0011344Severe global developmental delay0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0011344HP:0011344Severe global developmental delay0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0011344HP:0011344Severe global developmental delay0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0011344HP:0011344Severe global developmental delay0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0011344HP:0011344Severe global developmental delay0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0011344HP:0011344Severe global developmental delay0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0011344HP:0011344Severe global developmental delay0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0011344HP:0011344Severe global developmental delay0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0011344HP:0011344Severe global developmental delay0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011344HP:0011344Severe global developmental delay0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0011344HP:0011344Severe global developmental delay0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0011344HP:0011344Severe global developmental delay0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011344HP:0011344Severe global developmental delay0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0011344HP:0011344Severe global developmental delay0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0011344HP:0011344Severe global developmental delay0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011344HP:0011344Severe global developmental delay0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0011344HP:0011344Severe global developmental delay0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0011344HP:0011344Severe global developmental delay0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0011344HP:0011344Severe global developmental delay0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0011344HP:0011344Severe global developmental delay0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0011344HP:0011344Severe global developmental delay0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0011344HP:0011344Severe global developmental delay0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0011344HP:0011344Severe global developmental delay0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0011344HP:0011344Severe global developmental delay0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0011344HP:0011344Severe global developmental delay0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0011344HP:0011344Severe global developmental delay0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0011344HP:0011344Severe global developmental delay0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0011344HP:0011344Severe global developmental delay0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0011344HP:0011344Severe global developmental delay0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0011344HP:0011344Severe global developmental delay0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0011344HP:0011344Severe global developmental delay0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0011344HP:0011344Severe global developmental delay0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0011344HP:0011344Severe global developmental delay0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0011344HP:0011344Severe global developmental delay0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0011344HP:0011344Severe global developmental delay0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0011344HP:0011344Severe global developmental delay0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0011344HP:0011344Severe global developmental delay0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0011344HP:0011344Severe global developmental delay0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0011344HP:0011344Severe global developmental delay0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0011344HP:0011344Severe global developmental delay0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0011344HP:0011344Severe global developmental delay0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0011344HP:0011344Severe global developmental delay0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0011344HP:0011344Severe global developmental delay0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0011344HP:0011344Severe global developmental delay0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0011344HP:0011344Severe global developmental delay0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0011344HP:0011344Severe global developmental delay0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0011344HP:0011344Severe global developmental delay0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C18
HP:0011344HP:0011344Severe global developmental delay0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0011344HP:0011344Severe global developmental delay0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0011344HP:0011344Severe global developmental delay0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0011344HP:0011344Severe global developmental delay0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0011344HP:0011344Severe global developmental delay0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011344HP:0011344Severe global developmental delay0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0011344HP:0011344Severe global developmental delay0H4C5 CL E G H83674790OMIM:619950
HP:0011344HP:0011344Severe global developmental delay0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0011344HP:0011344Severe global developmental delay0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0011344HP:0011344Severe global developmental delay0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011344HP:0011344Severe global developmental delay0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0011344HP:0011344Severe global developmental delay0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011344HP:0011344Severe global developmental delay0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0011344HP:0011344Severe global developmental delay0KCNC2 CL E G H37476234OMIM:619913
HP:0011344HP:0011344Severe global developmental delay0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0011344HP:0011344Severe global developmental delay0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0011344HP:0011344Severe global developmental delay0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0011344HP:0011344Severe global developmental delay0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0KMT2B CL E G H975715840OMIM:61993411
HP:0011344HP:0011344Severe global developmental delay0LAMB1 CL E G H39126486ORPHA:352682Cobblestone lissencephaly without muscular or ocular involvementHP:0040282 - Frequent71
HP:0011344HP:0011344Severe global developmental delay0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 5.71
HP:0011344HP:0011344Severe global developmental delay0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0011344HP:0011344Severe global developmental delay0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0011344HP:0011344Severe global developmental delay0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0011344HP:0011344Severe global developmental delay0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0011344HP:0011344Severe global developmental delay0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0011344HP:0011344Severe global developmental delay0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0011344HP:0011344Severe global developmental delay0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0011344HP:0011344Severe global developmental delay0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0011344HP:0011344Severe global developmental delay0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0011344HP:0011344Severe global developmental delay0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040281 - Very frequent43
HP:0011344HP:0011344Severe global developmental delay0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011344HP:0011344Severe global developmental delay0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0011344HP:0011344Severe global developmental delay0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0011344HP:0011344Severe global developmental delay0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0011344HP:0011344Severe global developmental delay0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0011344HP:0011344Severe global developmental delay0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0011344HP:0011344Severe global developmental delay0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0011344HP:0011344Severe global developmental delay0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011344HP:0011344Severe global developmental delay0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0011344HP:0011344Severe global developmental delay0NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0011344HP:0011344Severe global developmental delay0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0011344HP:0011344Severe global developmental delay0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0011344HP:0011344Severe global developmental delay0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0011344HP:0011344Severe global developmental delay0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0011344HP:0011344Severe global developmental delay0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0011344HP:0011344Severe global developmental delay0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0011344HP:0011344Severe global developmental delay0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0011344HP:0011344Severe global developmental delay0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0011344HP:0011344Severe global developmental delay0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0011344HP:0011344Severe global developmental delay0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0011344HP:0011344Severe global developmental delay0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0011344HP:0011344Severe global developmental delay0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0011344HP:0011344Severe global developmental delay0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0011344HP:0011344Severe global developmental delay0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0011344HP:0011344Severe global developmental delay0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0011344HP:0011344Severe global developmental delay0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0011344HP:0011344Severe global developmental delay0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0011344HP:0011344Severe global developmental delay0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0011344HP:0011344Severe global developmental delay0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0011344HP:0011344Severe global developmental delay0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0011344HP:0011344Severe global developmental delay0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0011344HP:0011344Severe global developmental delay0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0011344HP:0011344Severe global developmental delay0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0011344HP:0011344Severe global developmental delay0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040281 - Very frequent7
HP:0011344HP:0011344Severe global developmental delay0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0011344HP:0011344Severe global developmental delay0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040281 - Very frequent37
HP:0011344HP:0011344Severe global developmental delay0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011344HP:0011344Severe global developmental delay0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011344HP:0011344Severe global developmental delay0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0011344HP:0011344Severe global developmental delay0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011344HP:0011344Severe global developmental delay0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0011344HP:0011344Severe global developmental delay0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0011344HP:0011344Severe global developmental delay0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011344HP:0011344Severe global developmental delay0PRIM1 CL E G H55579369OMIM:620005
HP:0011344HP:0011344Severe global developmental delay0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0011344HP:0011344Severe global developmental delay0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011344HP:0011344Severe global developmental delay0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011344HP:0011344Severe global developmental delay0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040282 - Frequent53
HP:0011344HP:0011344Severe global developmental delay0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0011344HP:0011344Severe global developmental delay0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0011344HP:0011344Severe global developmental delay0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0011344HP:0011344Severe global developmental delay0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0011344HP:0011344Severe global developmental delay0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0011344HP:0011344Severe global developmental delay0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0011344HP:0011344Severe global developmental delay0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0011344HP:0011344Severe global developmental delay0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0011344HP:0011344Severe global developmental delay0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0011344HP:0011344Severe global developmental delay0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011344HP:0011344Severe global developmental delay0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0011344HP:0011344Severe global developmental delay0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0011344HP:0011344Severe global developmental delay0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0011344HP:0011344Severe global developmental delay0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0011344HP:0011344Severe global developmental delay0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0011344HP:0011344Severe global developmental delay0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0011344HP:0011344Severe global developmental delay0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0011344HP:0011344Severe global developmental delay0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0011344HP:0011344Severe global developmental delay0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0011344HP:0011344Severe global developmental delay0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0011344HP:0011344Severe global developmental delay0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration48
HP:0011344HP:0011344Severe global developmental delay0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0011344HP:0011344Severe global developmental delay0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0011344HP:0011344Severe global developmental delay0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0011344HP:0011344Severe global developmental delay0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0011344HP:0011344Severe global developmental delay0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0011344HP:0011344Severe global developmental delay0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0011344HP:0011344Severe global developmental delay0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0011344HP:0011344Severe global developmental delay0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040281 - Very frequent1
HP:0011344HP:0011344Severe global developmental delay0TAF8 CL E G H12968517300OMIM:619972
HP:0011344HP:0011344Severe global developmental delay0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0011344HP:0011344Severe global developmental delay0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0011344HP:0011344Severe global developmental delay0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0011344HP:0011344Severe global developmental delay0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0011344HP:0011344Severe global developmental delay0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0011344HP:0011344Severe global developmental delay0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040281 - Very frequent12
HP:0011344HP:0011344Severe global developmental delay0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0011344HP:0011344Severe global developmental delay0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0011344HP:0011344Severe global developmental delay0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011344HP:0011344Severe global developmental delay0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0011344HP:0011344Severe global developmental delay0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0011344HP:0011344Severe global developmental delay0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0011344HP:0011344Severe global developmental delay0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0011344HP:0011344Severe global developmental delay0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0011344HP:0011344Severe global developmental delay0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0011344HP:0011344Severe global developmental delay0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0011344HP:0011344Severe global developmental delay0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0011344HP:0011344Severe global developmental delay0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011344HP:0011344Severe global developmental delay0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040281 - Very frequent21
HP:0011344HP:0011344Severe global developmental delay0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0011344HP:0011344Severe global developmental delay0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0011344HP:0011344Severe global developmental delay0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0011344HP:0011344Severe global developmental delay0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 29.1
HP:0011344HP:0011344Severe global developmental delay0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011344HP:0011344Severe global developmental delay0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011344HP:0011344Severe global developmental delay0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0011344HP:0011344Severe global developmental delay0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0011344HP:0011344Severe global developmental delay0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011344HP:0011344Severe global developmental delay0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0011344HP:0011344Severe global developmental delay0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0011344HP:0011344Severe global developmental delay0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011344HP:0011344Severe global developmental delay0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0011344HP:0011344Severe global developmental delay0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0011344HP:0011344Severe global developmental delay0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0011344HP:0011344Severe global developmental delay0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0011344HP:0011344Severe global developmental delay0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0011344HP:0011344Severe global developmental delay0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (212) :ABCC6 ACO2 ACOX1 ACTL6B ADAR ADK ADNP ADSL AIMP1 ALG1 ALG12 ALG2 AP3D1 ARNT2 ARX ASNS ASXL3 ATP6 ATPAF2 BUB1B C18ORF32 CASK CCDC47 CDKL5 CHKA CLTCL1 COG8 COPB2 CTNNA2 CTNND2 CYB5A CYB5R3 DAG1 DALRD3 DEAF1 DEGS1 DLK1 DPM1 DPYD DPYSL5 DYM DYNC1I2 DYRK1A ECHS1 EIF2S3 EMG1 ENPP1 ERCC1 ERCC2 ERCC5 ERCC6 EXOC2 EXOC8 EXTL3 FBXL4 FGF13 FGFR3 FIG4 FOXA2 FTO GABBR2 GABRA2 GABRG2 GAMT GEMIN4 GFM2 GLI2 GLUL GLYCTK GNPTAB GPHN GRIN1 GRM1 GRM7 GSX2 GTPBP2 H4C5 HESX1 INSR INTS1 JAG1 KARS1 KATNB1 KCNC2 KCNH1 KCNJ6 KDM5B KIF15 KMT2B LAMB1 LHX4 LIAS LSM11 MADD MAPKAPK5 MECP2 MED25 MEG3 MEIS2 MN1 MPDU1 MTRR NAA10 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDUFA8 NEXMIF NIN NKX6-2 NTNG1 NTRK2 OGDHL OTX2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHGDH PIGG PIGN PIGS PIGU PLCB3 POLRMT POMGNT1 POU1F1 PPP1R21 PRIM1 PROP1 PRORP PSMC3 PURA PYCR2 RAB3GAP2 RALGAPA1 RBL2 RELN RNASEH2A RNASEH2C RNASET2 RNF2 RPS6KA3 RTL1 RTTN SATB2 SEMA5A SEPSECS SLC16A2 SLC25A19 SLC25A46 SLC30A9 SLC33A1 SLC9A6 SMC1A SNX14 STAMBP STRADA STXBP1 SYT1 TAF8 TANGO2 TBC1D2B TBCK TBL1XR1 TBR1 TELO2 TRAPPC12 TRAPPC2L TRIM8 TRNK TRNL1 TRNT TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54 TTC26 TUBA8 TUBB2A TUBB3 TXN2 UGDH UGP2 UNC80 VPS11 VPS35L VPS4A VPS50 VPS51 VPS53 WDR26 WDR62 YY1 ZNF335 ZPR1

Diseases (188) :ORPHA:51608 OMIM:614559 OMIM:264470 OMIM:618468 OMIM:618470 OMIM:615010 OMIM:614300 ORPHA:404448 OMIM:103050 ORPHA:46 OMIM:260600 ORPHA:79327 ORPHA:79324 ORPHA:79326 OMIM:607906 OMIM:617050 OMIM:615926 ORPHA:2508 OMIM:308350 OMIM:300215 OMIM:615574 OMIM:615485 ORPHA:255210 OMIM:604273 OMIM:257300 OMIM:619985 ORPHA:163937 OMIM:618268 ORPHA:3095 ORPHA:505652 OMIM:620023 ORPHA:453510 ORPHA:95428 OMIM:617800 OMIM:618174 ORPHA:281 ORPHA:621 ORPHA:370997 OMIM:618910 ORPHA:468620 OMIM:618404 ORPHA:96334 OMIM:608799 ORPHA:1675 OMIM:619435 OMIM:223800 OMIM:618492 OMIM:614104 OMIM:616277 ORPHA:85282 ORPHA:1270 ORPHA:1466 OMIM:619306 OMIM:619076 ORPHA:508533 OMIM:615471 OMIM:301058 ORPHA:85165 OMIM:216340 ORPHA:95494 OMIM:612938 OMIM:618557 OMIM:618396 OMIM:612736 ORPHA:382 OMIM:617913 ORPHA:565624 OMIM:610015 ORPHA:941 OMIM:252500 OMIM:615501 ORPHA:208447 OMIM:619814 OMIM:614831 OMIM:618922 OMIM:618646 OMIM:617988 OMIM:619950 ORPHA:508 OMIM:618571 OMIM:118450 OMIM:619147 ORPHA:89844 OMIM:619913 ORPHA:420561 ORPHA:435628 OMIM:618109 ORPHA:261323 OMIM:619934 ORPHA:352682 OMIM:615191 OMIM:614462 OMIM:619486 OMIM:619004 OMIM:619005 OMIM:619869 OMIM:300260 ORPHA:1762 ORPHA:464738 OMIM:600987 OMIM:618774 OMIM:609180 ORPHA:2169 OMIM:300855 OMIM:619272 ORPHA:85277 OMIM:614851 OMIM:617560 OMIM:613886 OMIM:619701 ORPHA:44 OMIM:614870 OMIM:614876 OMIM:614882 OMIM:618298 ORPHA:79351 ORPHA:488635 ORPHA:2059 ORPHA:280633 OMIM:618143 OMIM:618590 OMIM:618961 OMIM:619743 OMIM:253280 OMIM:619383 OMIM:620005 OMIM:619737 OMIM:619354 ORPHA:438216 ORPHA:481152 OMIM:212720 OMIM:614225 OMIM:618797 OMIM:619690 OMIM:610333 OMIM:610329 OMIM:612951 OMIM:619460 ORPHA:192 ORPHA:468631 ORPHA:251028 ORPHA:2524 OMIM:300523 ORPHA:99742 OMIM:619303 OMIM:617595 OMIM:614482 ORPHA:85278 OMIM:301044 ORPHA:397709 OMIM:614261 ORPHA:500533 OMIM:612164 ORPHA:522077 OMIM:619972 ORPHA:480864 ORPHA:397973 ORPHA:488632 ORPHA:487825 ORPHA:1617 ORPHA:488642 ORPHA:500144 OMIM:617669 OMIM:618331 OMIM:619428 ORPHA:254857 OMIM:277470 OMIM:225753 OMIM:619534 ORPHA:250972 OMIM:615763 ORPHA:300570 ORPHA:478029 OMIM:616811 OMIM:618792 OMIM:618744 OMIM:616801 OMIM:616683 OMIM:619135 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 ORPHA:513456 OMIM:604317 ORPHA:506358 OMIM:615095 OMIM:619321
 

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