Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Poor speech (HP:0002465)help
Term ID: 2465
Name: Poor speech
Synonym: Difficulty speaking; Poor speech; Problems speaking
Definition:
Comments:
Reference: HP:0002465
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) 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:0002465HP:0002465Poor speech0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0002465HP:0002465Poor speech0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0002465HP:0002465Poor speech0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0002465HP:0002465Poor speech0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0002465HP:0002465Poor speech0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0002465HP:0002465Poor speech0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0002465HP:0002465Poor speech0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0002465HP:0002465Poor speech0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0002465HP:0002465Poor speech0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0002465HP:0002465Poor speech0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040282 - Frequent48
HP:0002465HP:0002465Poor speech0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040282 - Frequent5
HP:0002465HP:0002465Poor speech0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0002465HP:0002465Poor speech0ATP1A1 CL E G H476799ORPHA:564178Primary hypomagnesemia with refractory seizures and intellectual disabilityHP:0040282 - Frequent4
HP:0002465HP:0002465Poor speech0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0002465HP:0002465Poor speech0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0002465HP:0002465Poor speech0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0002465HP:0002465Poor speech0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0002465HP:0002465Poor speech0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0002465HP:0002465Poor speech0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0002465HP:0002465Poor speech0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0002465HP:0002465Poor speech0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0002465HP:0002465Poor speech0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0002465HP:0002465Poor speech0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0002465HP:0002465Poor speech0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0002465HP:0002465Poor speech0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0002465HP:0002465Poor speech0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0002465HP:0002465Poor speech0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0002465HP:0002465Poor speech0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0002465HP:0002465Poor speech0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0002465HP:0002465Poor speech0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0002465HP:0002465Poor speech0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0002465HP:0002465Poor speech0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0002465HP:0002465Poor speech0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0002465HP:0002465Poor speech0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0002465HP:0002465Poor speech0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002465HP:0002465Poor speech0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0002465HP:0002465Poor speech0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0002465HP:0002465Poor speech0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0002465HP:0002465Poor speech0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040281 - Very frequent88
HP:0002465HP:0002465Poor speech0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0002465HP:0002465Poor speech0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0002465HP:0002465Poor speech0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0002465HP:0002465Poor speech0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0002465HP:0002465Poor speech0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0002465HP:0002465Poor speech0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0002465HP:0002465Poor speech0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002465HP:0002465Poor speech0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0002465HP:0002465Poor speech0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0002465HP:0002465Poor speech0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0002465HP:0002465Poor speech0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0002465HP:0002465Poor speech0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0002465HP:0002465Poor speech0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0002465HP:0002465Poor speech0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0002465HP:0002465Poor speech0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0002465HP:0002465Poor speech0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0002465HP:0002465Poor speech0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0002465HP:0002465Poor speech0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040282 - Frequent
HP:0002465HP:0002465Poor speech0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0002465HP:0002465Poor speech0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0002465HP:0002465Poor speech0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0002465HP:0002465Poor speech0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0002465HP:0002465Poor speech0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0002465HP:0002465Poor speech0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0002465HP:0002465Poor speech0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0002465HP:0002465Poor speech0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0002465HP:0002465Poor speech0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0002465HP:0002465Poor speech0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0002465HP:0002465Poor speech0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0002465HP:0002465Poor speech0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0002465HP:0002465Poor speech0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0002465HP:0002465Poor speech0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040282 - Frequent143
HP:0002465HP:0002465Poor speech0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0002465HP:0002465Poor speech0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0002465HP:0002465Poor speech0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0002465HP:0002465Poor speech0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0002465HP:0002465Poor speech0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0002465HP:0002465Poor speech0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0002465HP:0002465Poor speech0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0002465HP:0002465Poor speech0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0002465HP:0002465Poor speech0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0002465HP:0002465Poor speech0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0002465HP:0002465Poor speech0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002465HP:0002465Poor speech0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0002465HP:0002465Poor speech0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0002465HP:0002465Poor speech0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0002465HP:0002465Poor speech0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0002465HP:0002465Poor speech0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0002465HP:0002465Poor speech0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0002465HP:0002465Poor speech0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0002465HP:0002465Poor speech0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0002465HP:0002465Poor speech0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0002465HP:0002465Poor speech0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0002465HP:0002465Poor speech0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0002465HP:0002465Poor speech0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0002465HP:0002465Poor speech0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0002465HP:0002465Poor speech0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0002465HP:0002465Poor speech0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0002465HP:0002465Poor speech0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1.119
HP:0002465HP:0002465Poor speech0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0002465HP:0002465Poor speech0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0002465HP:0002465Poor speech0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0002465HP:0002465Poor speech0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0002465HP:0002465Poor speech0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0002465HP:0002465Poor speech0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0002465HP:0002465Poor speech0KMT2B CL E G H975715840OMIM:61993411
HP:0002465HP:0002465Poor speech0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0002465HP:0002465Poor speech0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0002465HP:0002465Poor speech0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0002465HP:0002465Poor speech0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040282 - Frequent93
HP:0002465HP:0002465Poor speech0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0002465HP:0002465Poor speech0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040282 - Frequent140
HP:0002465HP:0002465Poor speech0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0002465HP:0002465Poor speech0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0002465HP:0002465Poor speech0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0002465HP:0002465Poor speech0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0002465HP:0002465Poor speech0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0002465HP:0002465Poor speech0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0002465HP:0002465Poor speech0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0002465HP:0002465Poor speech0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0002465HP:0002465Poor speech0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002465HP:0002465Poor speech0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0002465HP:0002465Poor speech0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0002465HP:0002465Poor speech0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0002465HP:0002465Poor speech0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0002465HP:0002465Poor speech0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0002465HP:0002465Poor speech0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002465HP:0002465Poor speech0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002465HP:0002465Poor speech0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0002465HP:0002465Poor speech0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0002465HP:0002465Poor speech0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0002465HP:0002465Poor speech0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0002465HP:0002465Poor speech0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002465HP:0002465Poor speech0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0002465HP:0002465Poor speech0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0002465HP:0002465Poor speech0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0002465HP:0002465Poor speech0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0002465HP:0002465Poor speech0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002465HP:0002465Poor speech0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 16.1
HP:0002465HP:0002465Poor speech0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0002465HP:0002465Poor speech0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0002465HP:0002465Poor speech0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0002465HP:0002465Poor speech0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0002465HP:0002465Poor speech0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0002465HP:0002465Poor speech0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0002465HP:0002465Poor speech0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent2
HP:0002465HP:0002465Poor speech0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0002465HP:0002465Poor speech0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0002465HP:0002465Poor speech0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0002465HP:0002465Poor speech0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0002465HP:0002465Poor speech0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0002465HP:0002465Poor speech0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0002465HP:0002465Poor speech0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0002465HP:0002465Poor speech0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0002465HP:0002465Poor speech0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0002465HP:0002465Poor speech0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0002465HP:0002465Poor speech0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0002465HP:0002465Poor speech0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0002465HP:0002465Poor speech0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0002465HP:0002465Poor speech0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002465HP:0002465Poor speech0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0002465HP:0002465Poor speech0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephaly.37
HP:0002465HP:0002465Poor speech0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0002465HP:0002465Poor speech0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures.113
HP:0002465HP:0002465Poor speech0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0002465HP:0002465Poor speech0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0002465HP:0002465Poor speech0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0002465HP:0002465Poor speech0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0002465HP:0002465Poor speech0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0002465HP:0002465Poor speech0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0002465HP:0002465Poor speech0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0002465HP:0002465Poor speech0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0002465HP:0002465Poor speech0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002465HP:0002465Poor speech0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0002465HP:0002465Poor speech0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040282 - Frequent110
HP:0002465HP:0002465Poor speech0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0002465HP:0002465Poor speech0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002465HP:0002465Poor speech0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0002465HP:0002465Poor speech0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0002465HP:0002465Poor speech0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0002465HP:0002465Poor speech0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0002465HP:0002465Poor speech0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0002465HP:0002465Poor speech0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 3.91
HP:0002465HP:0002465Poor speech0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0002465HP:0002465Poor speech0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0002465HP:0002465Poor speech0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0002465HP:0002465Poor speech0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0002465HP:0002465Poor speech0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0002465HP:0002465Poor speech0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0002465HP:0002465Poor speech0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0002465HP:0002465Poor speech0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0002465HP:0002465Poor speech0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0002465HP:0002465Poor speech0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0002465HP:0002465Poor speech0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0002465HP:0002465Poor speech0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0002465HP:0002465Poor speech0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0002465HP:0002465Poor speech0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0002465HP:0002465Poor speech0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0002465HP:0002465Poor speech0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0002465HP:0002465Poor speech0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0002465HP:0002465Poor speech0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002465HP:0002465Poor speech0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0002465HP:0002465Poor speech0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0002465HP:0002465Poor speech0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002465HP:0002465Poor speech0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0002465HP:0002465Poor speech0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0002465HP:0002465Poor speech0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040281 - Very frequent8
HP:0002465HP:0002465Poor speech0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent7
HP:0002465HP:0002465Poor speech0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0002465HP:0002465Poor speech0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0002465HP:0002465Poor speech0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0002465HP:0002465Poor speech0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0002465HP:0002465Poor speech0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0002465HP:0002465Poor speech0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0002465HP:0002465Poor speech0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0002465HP:0002465Poor speech0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040281 - Very frequent7
HP:0002465HP:0002465Poor speech0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0002465HP:0002465Poor speech0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0002465HP:0002465Poor speech0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0002465HP:0002465Poor speech0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002465HP:0002465Poor speech0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0002465HP:0002465Poor speech0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0002465HP:0002465Poor speech0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0002465HP:0002465Poor speech0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0002465HP:0002465Poor speech0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0002465HP:0002465Poor speech0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002465HP:0002465Poor speech0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002465HP:0002465Poor speech0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002465HP:0002465Poor speech0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0002465HP:0002465Poor speech0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies.
HP:0002465HP:0002465Poor speech0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0002465HP:0002465Poor speech0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362
HP:0002465HP:0002465Poor speech0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0002465HP:0002465Poor speech0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0002465HP:0002465Poor speech0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0002465HP:0002465Poor speech0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0002465HP:0002465Poor speech0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4


Genes (194) :ADK ADPRS ALG9 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ASPA ATAD3A ATP10A ATP1A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 BRF1 C9ORF72 CAD CAMK2G CASZ1 CCDC22 CDC42 CDON CHKB CHMP1A CHMP2B CHSY1 CIC CLIC2 CNTNAP2 COG8 CSF1R CTNNB1 DAG1 DIAPH1 DISP1 DLAT DLL1 DOCK7 DYM DYRK1A EIF2S3 EXT2 FBXL3 FDXR FGF12 FGF8 FGFR1 FKRP FMN2 FOXH1 FOXP2 FOXRED1 FRMD4A GABRD GAMT GAS1 GATA4 GATAD2B GJC2 GLI2 GMPPB GNPTAB GPR88 GRN GUSB HDAC8 HEPHL1 HNRNPK HS6ST2 HSPG2 IFNG INPP5E IQSEC2 KANSL1 KAT6A KCNAB2 KCNMA1 KIF14 KIF15 KMT2B LARGE1 LAS1L LRPPRC LUZP1 MAN1B1 MAPT MED13L MED25 MID1 MID2 MMP23B MRPS2 MTHFS MTO1 NAA20 NAGS NALCN NDST1 NDUFA13 NDUFA6 NDUFS1 NGLY1 NODAL NONO NUBPL OCA2 ODC1 OPHN1 PAK1 PAK3 PDPN PIGC PIGH PLCH1 PLPBP POMK POMT1 POMT2 PPP1R15B PPP2R1A PPP2R5D PRDM16 PRKCZ PSEN1 PTCH1 PUS3 PYCR2 RAB39B RAC1 RERE RILPL1 RLIM RNASET2 RTTN SARDH SASS6 SATB2 SET SHH SIX3 SKI SLC19A3 SLC35A1 SLC39A14 SLC39A8 SLC6A17 SMARCA2 SMC1A SMC3 SNAP25 SNRPN SOBP SPEN SQSTM1 STAG2 STIL SYNGAP1 SYT1 TAF2 TAF6 TBCD TBCK TDGF1 TELO2 TGIF1 TMEM106B TRAPPC10 TRAPPC11 TREM2 TRIO TRMT10A TRMT5 TRRAP TSC1 TSC2 TUBB3 TUBB4A UBE2A UBE3A UBE4B UNC80 UQCC2 VCP VLDLR VPS11 WDR45 WDR73 WIPI2 ZEB2 ZIC2 ZNF148

Diseases (158) :OMIM:614300 OMIM:618170 OMIM:608776 ORPHA:85335 ORPHA:280763 OMIM:617169 ORPHA:314918 ORPHA:496790 ORPHA:411515 ORPHA:564178 ORPHA:357074 ORPHA:79499 ORPHA:444072 ORPHA:275864 OMIM:616457 OMIM:618522 ORPHA:1606 OMIM:300963 ORPHA:487796 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:602541 OMIM:614961 ORPHA:363417 OMIM:617600 ORPHA:324410 ORPHA:163681 OMIM:610042 ORPHA:95428 OMIM:618476 ORPHA:404473 ORPHA:280333 OMIM:616632 OMIM:245348 ORPHA:411986 ORPHA:239 ORPHA:268261 OMIM:300148 OMIM:616682 OMIM:606220 ORPHA:543470 OMIM:617166 ORPHA:370968 OMIM:616193 ORPHA:209908 OMIM:618241 ORPHA:466688 ORPHA:382 ORPHA:251071 OMIM:615074 ORPHA:363686 OMIM:608804 ORPHA:576 OMIM:616939 OMIM:253220 ORPHA:3459 OMIM:261990 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:301025 ORPHA:805 ORPHA:75858 OMIM:309530 OMIM:610443 ORPHA:457193 OMIM:617643 OMIM:617914 ORPHA:261323 OMIM:619934 ORPHA:70472 ORPHA:397941 ORPHA:240112 ORPHA:369891 OMIM:616789 ORPHA:464738 ORPHA:2745 OMIM:300928 OMIM:617950 OMIM:618367 OMIM:614702 OMIM:619717 ORPHA:927 OMIM:615419 OMIM:616116 OMIM:618249 OMIM:618253 OMIM:618226 ORPHA:404454 ORPHA:466791 OMIM:618242 ORPHA:98794 ORPHA:544488 ORPHA:137831 OMIM:618158 OMIM:300558 OMIM:617816 OMIM:618010 OMIM:617290 OMIM:615249 ORPHA:391408 ORPHA:457284 ORPHA:457279 ORPHA:488627 ORPHA:481152 OMIM:311510 ORPHA:500159 OMIM:619790 OMIM:300978 OMIM:612951 ORPHA:468631 OMIM:614833 ORPHA:3129 OMIM:616402 ORPHA:576283 OMIM:618106 ORPHA:263410 OMIM:603585 ORPHA:521406 ORPHA:468699 ORPHA:457212 OMIM:601358 OMIM:300590 OMIM:610759 OMIM:616330 OMIM:613671 ORPHA:544254 ORPHA:522077 ORPHA:397951 OMIM:617126 ORPHA:496641 OMIM:616900 ORPHA:488642 OMIM:620027 OMIM:615356 OMIM:617061 ORPHA:476126 OMIM:616539 OMIM:618454 ORPHA:300570 OMIM:612438 OMIM:300860 ORPHA:163956 ORPHA:98795 OMIM:616801 OMIM:615824 OMIM:224050 OMIM:616683 ORPHA:466934 ORPHA:329284 OMIM:300894 OMIM:251300 OMIM:618453 ORPHA:261552 ORPHA:261537 OMIM:617260
 

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