Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Motor stereotypy (HP:0000733)help
Term ID: 733
Name: Motor stereotypy
Synonym: Repetitive movements; Repetitive or self-injurious behavior; Repetitive or self-injurious behaviour; Stereotyped behavior; Stereotyped behaviors; Stereotyped behaviour; Stereotyped behaviours; Stereotyped, repetitive behavior; Stereotyped, repetitive behaviour; Stereotypic behavior; Stereotypic behaviors; Stereotypic behaviour; Stereotypic behaviours; Stereotypical motor behavior; Stereotypical motor behaviors; Stereotypical motor behaviours
Definition: A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Comments:
Reference: HP:0000733
Genes and Diseases:
 
       Child Nodes:
........expandEye poking (HP:0001483) help
........expandRepetitive compulsive behavior (HP:0008762) help
........expandStereotypical hand wringing (HP:0012171) help
........expandStereotypical body rocking (HP:0012172) help
........expandPunding (HP:0030218) help
........expandRecurrent hand flapping (HP:0100023) help
........expandTongue thrusting (HP:0100703) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) 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:0000733HP:0000733Motor stereotypy0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000733HP:0000733Motor stereotypy0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000733HP:0000733Motor stereotypy0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0000733HP:0000733Motor stereotypy0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000733HP:0000733Motor stereotypy0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000733HP:0000733Motor stereotypy0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000733HP:0000733Motor stereotypy0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0000733HP:0000733Motor stereotypy0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0000733HP:0000733Motor stereotypy0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0000733HP:0000733Motor stereotypy0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0000733HP:0000733Motor stereotypy0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000733HP:0000733Motor stereotypy0ARPC4 CL E G H10093707OMIM:620141
HP:0000733HP:0000733Motor stereotypy0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000733HP:0000733Motor stereotypy0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000733HP:0000733Motor stereotypy0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000733HP:0000733Motor stereotypy0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000733HP:0000733Motor stereotypy0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000733HP:0000733Motor stereotypy0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000733HP:0000733Motor stereotypy0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000733HP:0000733Motor stereotypy0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000733HP:0000733Motor stereotypy0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000733HP:0000733Motor stereotypy0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent94
HP:0000733HP:0000733Motor stereotypy0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0000733HP:0000733Motor stereotypy0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000733HP:0000733Motor stereotypy0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000733HP:0000733Motor stereotypy0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000733HP:0000733Motor stereotypy0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0000733HP:0000733Motor stereotypy0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0000733HP:0000733Motor stereotypy0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0000733HP:0000733Motor stereotypy0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000733HP:0000733Motor stereotypy0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0000733HP:0000733Motor stereotypy0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0000733HP:0000733Motor stereotypy0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000733HP:0000733Motor stereotypy0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040283 - Occasional2
HP:0000733HP:0000733Motor stereotypy0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000733HP:0000733Motor stereotypy0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000733HP:0000733Motor stereotypy0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000733HP:0000733Motor stereotypy0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0000733HP:0000733Motor stereotypy0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent188
HP:0000733HP:0000733Motor stereotypy0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent225
HP:0000733HP:0000733Motor stereotypy0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent88
HP:0000733HP:0000733Motor stereotypy0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000733HP:0000733Motor stereotypy0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000733HP:0000733Motor stereotypy0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000733HP:0000733Motor stereotypy0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000733HP:0000733Motor stereotypy0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000733HP:0000733Motor stereotypy0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000733HP:0000733Motor stereotypy0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000733HP:0000733Motor stereotypy0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000733HP:0000733Motor stereotypy0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent1
HP:0000733HP:0000733Motor stereotypy0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000733HP:0000733Motor stereotypy0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000733HP:0000733Motor stereotypy0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000733HP:0000733Motor stereotypy0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000733HP:0000733Motor stereotypy0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent172
HP:0000733HP:0000733Motor stereotypy0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000733HP:0000733Motor stereotypy0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000733HP:0000733Motor stereotypy0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0000733HP:0000733Motor stereotypy0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000733HP:0000733Motor stereotypy0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0000733HP:0000733Motor stereotypy0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0000733HP:0000733Motor stereotypy0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000733HP:0000733Motor stereotypy0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000733HP:0000733Motor stereotypy0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0000733HP:0000733Motor stereotypy0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000733HP:0000733Motor stereotypy0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000733HP:0000733Motor stereotypy0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0000733HP:0000733Motor stereotypy0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000733HP:0000733Motor stereotypy0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0000733HP:0000733Motor stereotypy0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000733HP:0000733Motor stereotypy0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000733HP:0000733Motor stereotypy0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000733HP:0000733Motor stereotypy0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000733HP:0000733Motor stereotypy0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000733HP:0000733Motor stereotypy0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000733HP:0000733Motor stereotypy0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000733HP:0000733Motor stereotypy0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000733HP:0000733Motor stereotypy0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0000733HP:0000733Motor stereotypy0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000733HP:0000733Motor stereotypy0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0000733HP:0000733Motor stereotypy0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000733HP:0000733Motor stereotypy0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0000733HP:0000733Motor stereotypy0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000733HP:0000733Motor stereotypy0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0000733HP:0000733Motor stereotypy0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0000733HP:0000733Motor stereotypy0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0000733HP:0000733Motor stereotypy0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000733HP:0000733Motor stereotypy0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0000733HP:0000733Motor stereotypy0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000733HP:0000733Motor stereotypy0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000733HP:0000733Motor stereotypy0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0000733HP:0000733Motor stereotypy0GNAI1 CL E G H27704384OMIM:619854
HP:0000733HP:0000733Motor stereotypy0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000733HP:0000733Motor stereotypy0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000733HP:0000733Motor stereotypy0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000733HP:0000733Motor stereotypy0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0000733HP:0000733Motor stereotypy0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0000733HP:0000733Motor stereotypy0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0000733HP:0000733Motor stereotypy0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000733HP:0000733Motor stereotypy0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0000733HP:0000733Motor stereotypy0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0000733HP:0000733Motor stereotypy0H4C5 CL E G H83674790OMIM:619950
HP:0000733HP:0000733Motor stereotypy0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0000733HP:0000733Motor stereotypy0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000733HP:0000733Motor stereotypy0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000733HP:0000733Motor stereotypy0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000733HP:0000733Motor stereotypy0HNRNPR CL E G H102365047OMIM:620073
HP:0000733HP:0000733Motor stereotypy0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000733HP:0000733Motor stereotypy0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000733HP:0000733Motor stereotypy0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0000733HP:0000733Motor stereotypy0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0000733HP:0000733Motor stereotypy0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000733HP:0000733Motor stereotypy0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0000733HP:0000733Motor stereotypy0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000733HP:0000733Motor stereotypy0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000733HP:0000733Motor stereotypy0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000733HP:0000733Motor stereotypy0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0000733HP:0000733Motor stereotypy0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000733HP:0000733Motor stereotypy0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent321
HP:0000733HP:0000733Motor stereotypy0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0000733HP:0000733Motor stereotypy0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0000733HP:0000733Motor stereotypy0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000733HP:0000733Motor stereotypy0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000733HP:0000733Motor stereotypy0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040282 - Frequent13
HP:0000733HP:0000733Motor stereotypy0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0000733HP:0000733Motor stereotypy0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0000733HP:0000733Motor stereotypy0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040282 - Frequent16
HP:0000733HP:0000733Motor stereotypy0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000733HP:0000733Motor stereotypy0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000733HP:0000733Motor stereotypy0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000733HP:0000733Motor stereotypy0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0000733HP:0000733Motor stereotypy0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000733HP:0000733Motor stereotypy0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000733HP:0000733Motor stereotypy0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000733HP:0000733Motor stereotypy0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040281 - Very frequent252
HP:0000733HP:0000733Motor stereotypy0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000733HP:0000733Motor stereotypy0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0000733HP:0000733Motor stereotypy0MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0000733HP:0000733Motor stereotypy0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000733HP:0000733Motor stereotypy0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0000733HP:0000733Motor stereotypy0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0000733HP:0000733Motor stereotypy0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040282 - Frequent132
HP:0000733HP:0000733Motor stereotypy0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000733HP:0000733Motor stereotypy0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000733HP:0000733Motor stereotypy0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0000733HP:0000733Motor stereotypy0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000733HP:0000733Motor stereotypy0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000733HP:0000733Motor stereotypy0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000733HP:0000733Motor stereotypy0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000733HP:0000733Motor stereotypy0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0000733HP:0000733Motor stereotypy0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0000733HP:0000733Motor stereotypy0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0000733HP:0000733Motor stereotypy0NAPB CL E G H6390815751OMIM:6200332
HP:0000733HP:0000733Motor stereotypy0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000733HP:0000733Motor stereotypy0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0000733HP:0000733Motor stereotypy0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0000733HP:0000733Motor stereotypy0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000733HP:0000733Motor stereotypy0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0000733HP:0000733Motor stereotypy0NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 1.24
HP:0000733HP:0000733Motor stereotypy0NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0000733HP:0000733Motor stereotypy0NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 2.57
HP:0000733HP:0000733Motor stereotypy0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 2.57
HP:0000733HP:0000733Motor stereotypy0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000733HP:0000733Motor stereotypy0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000733HP:0000733Motor stereotypy0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0000733HP:0000733Motor stereotypy0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0000733HP:0000733Motor stereotypy0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000733HP:0000733Motor stereotypy0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000733HP:0000733Motor stereotypy0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0000733HP:0000733Motor stereotypy0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000733HP:0000733Motor stereotypy0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0000733HP:0000733Motor stereotypy0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0000733HP:0000733Motor stereotypy0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0000733HP:0000733Motor stereotypy0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000733HP:0000733Motor stereotypy0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0000733HP:0000733Motor stereotypy0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000733HP:0000733Motor stereotypy0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000733HP:0000733Motor stereotypy0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000733HP:0000733Motor stereotypy0PDZD8 CL E G H11898726974OMIM:620021
HP:0000733HP:0000733Motor stereotypy0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000733HP:0000733Motor stereotypy0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000733HP:0000733Motor stereotypy0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000733HP:0000733Motor stereotypy0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000733HP:0000733Motor stereotypy0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0000733HP:0000733Motor stereotypy0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000733HP:0000733Motor stereotypy0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000733HP:0000733Motor stereotypy0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000733HP:0000733Motor stereotypy0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0000733HP:0000733Motor stereotypy0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000733HP:0000733Motor stereotypy0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000733HP:0000733Motor stereotypy0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000733HP:0000733Motor stereotypy0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000733HP:0000733Motor stereotypy0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000733HP:0000733Motor stereotypy0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 72.34
HP:0000733HP:0000733Motor stereotypy0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000733HP:0000733Motor stereotypy0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0000733HP:0000733Motor stereotypy0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000733HP:0000733Motor stereotypy0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000733HP:0000733Motor stereotypy0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000733HP:0000733Motor stereotypy0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000733HP:0000733Motor stereotypy0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0000733HP:0000733Motor stereotypy0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000733HP:0000733Motor stereotypy0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000733HP:0000733Motor stereotypy0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0000733HP:0000733Motor stereotypy0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000733HP:0000733Motor stereotypy0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000733HP:0000733Motor stereotypy0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000733HP:0000733Motor stereotypy0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0000733HP:0000733Motor stereotypy0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000733HP:0000733Motor stereotypy0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000733HP:0000733Motor stereotypy0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0000733HP:0000733Motor stereotypy0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000733HP:0000733Motor stereotypy0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0000733HP:0000733Motor stereotypy0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000733HP:0000733Motor stereotypy0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0000733HP:0000733Motor stereotypy0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000733HP:0000733Motor stereotypy0SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0000733HP:0000733Motor stereotypy0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000733HP:0000733Motor stereotypy0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0000733HP:0000733Motor stereotypy0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0000733HP:0000733Motor stereotypy0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000733HP:0000733Motor stereotypy0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000733HP:0000733Motor stereotypy0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000733HP:0000733Motor stereotypy0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000733HP:0000733Motor stereotypy0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathy108
HP:0000733HP:0000733Motor stereotypy0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0000733HP:0000733Motor stereotypy0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0000733HP:0000733Motor stereotypy0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000733HP:0000733Motor stereotypy0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000733HP:0000733Motor stereotypy0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000733HP:0000733Motor stereotypy0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000733HP:0000733Motor stereotypy0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0000733HP:0000733Motor stereotypy0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0000733HP:0000733Motor stereotypy0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000733HP:0000733Motor stereotypy0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0000733HP:0000733Motor stereotypy0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0000733HP:0000733Motor stereotypy0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000733HP:0000733Motor stereotypy0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000733HP:0000733Motor stereotypy0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0000733HP:0000733Motor stereotypy0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0000733HP:0000733Motor stereotypy0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000733HP:0000733Motor stereotypy0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000733HP:0000733Motor stereotypy0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0000733HP:0000733Motor stereotypy0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0000733HP:0000733Motor stereotypy0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000733HP:0000733Motor stereotypy0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000733HP:0000733Motor stereotypy0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000733HP:0000733Motor stereotypy0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000733HP:0000733Motor stereotypy0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000733HP:0000733Motor stereotypy0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000733HP:0000733Motor stereotypy0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0000733HP:0000733Motor stereotypy0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0000733HP:0000733Motor stereotypy0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000733HP:0000733Motor stereotypy0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0000733HP:0000733Motor stereotypy0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000733HP:0000733Motor stereotypy0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0000733HP:0000733Motor stereotypy0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0000733HP:0000733Motor stereotypy0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0000733HP:0000733Motor stereotypy0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000733HP:0000733Motor stereotypy0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000733HP:0000733Motor stereotypy0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000733HP:0000733Motor stereotypy0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000733HP:0000733Motor stereotypy0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000733HP:0000733Motor stereotypy0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0000733HP:0000733Motor stereotypy0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0000733HP:0000733Motor stereotypy0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000733HP:0000733Motor stereotypy0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000733HP:0000733Motor stereotypy0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000733HP:0000733Motor stereotypy0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000733HP:0000733Motor stereotypy0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000733HP:0012172Stereotypical body rocking1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0000733HP:0100023Recurrent hand flapping1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000733HP:0100023Recurrent hand flapping1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000733HP:0012172Stereotypical body rocking1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000733HP:0100023Recurrent hand flapping1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000733HP:0100023Recurrent hand flapping1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000733HP:0008762Repetitive compulsive behavior1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000733HP:0100703Tongue thrusting1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000733HP:0030218Punding1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0000733HP:0100023Recurrent hand flapping1CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000733HP:0012171Stereotypical hand wringing1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0000733HP:0100703Tongue thrusting1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0000733HP:0012171Stereotypical hand wringing1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0000733HP:0012171Stereotypical hand wringing1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000733HP:0100023Recurrent hand flapping1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000733HP:0100023Recurrent hand flapping1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000733HP:0012171Stereotypical hand wringing1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000733HP:0001483Eye poking1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000733HP:0100703Tongue thrusting1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000733HP:0100023Recurrent hand flapping1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000733HP:0008762Repetitive compulsive behavior1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0000733HP:0012172Stereotypical body rocking1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0000733HP:0012171Stereotypical hand wringing1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000733HP:0012171Stereotypical hand wringing1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000733HP:0100023Recurrent hand flapping1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0000733HP:0100023Recurrent hand flapping1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000733HP:0100703Tongue thrusting1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0000733HP:0008762Repetitive compulsive behavior1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000733HP:0100703Tongue thrusting1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0000733HP:0012171Stereotypical hand wringing1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0000733HP:0030218Punding1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0000733HP:0030218Punding1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0000733HP:0030218Punding1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0000733HP:0100703Tongue thrusting1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0000733HP:0012171Stereotypical hand wringing1GNAI1 CL E G H27704384OMIM:619854
HP:0000733HP:0012172Stereotypical body rocking1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000733HP:0012171Stereotypical hand wringing1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000733HP:0100023Recurrent hand flapping1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000733HP:0100703Tongue thrusting1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000733HP:0012171Stereotypical hand wringing1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0000733HP:0008762Repetitive compulsive behavior1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000733HP:0001483Eye poking1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000733HP:0012171Stereotypical hand wringing1H4C5 CL E G H83674790OMIM:619950
HP:0000733HP:0100023Recurrent hand flapping1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000733HP:0100023Recurrent hand flapping1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000733HP:0100023Recurrent hand flapping1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000733HP:0008762Repetitive compulsive behavior1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000733HP:0012171Stereotypical hand wringing1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0000733HP:0030218Punding1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0000733HP:0012171Stereotypical hand wringing1KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0000733HP:0012172Stereotypical body rocking1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000733HP:0100703Tongue thrusting1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000733HP:0100023Recurrent hand flapping1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000733HP:0012171Stereotypical hand wringing1LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0000733HP:0012171Stereotypical hand wringing1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000733HP:0100023Recurrent hand flapping1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000733HP:0012171Stereotypical hand wringing1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0000733HP:0100703Tongue thrusting1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0000733HP:0008762Repetitive compulsive behavior1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000733HP:0012171Stereotypical hand wringing1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0000733HP:0012171Stereotypical hand wringing1MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0000733HP:0012171Stereotypical hand wringing1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0000733HP:0100023Recurrent hand flapping1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000733HP:0012171Stereotypical hand wringing1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0000733HP:0100023Recurrent hand flapping1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000733HP:0012172Stereotypical body rocking1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000733HP:0012171Stereotypical hand wringing1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000733HP:0001483Eye poking1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000733HP:0100023Recurrent hand flapping1NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000733HP:0008762Repetitive compulsive behavior1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000733HP:0012171Stereotypical hand wringing1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0000733HP:0100703Tongue thrusting1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0000733HP:0100703Tongue thrusting1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000733HP:0100023Recurrent hand flapping1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0000733HP:0100023Recurrent hand flapping1PDZD8 CL E G H11898726974OMIM:620021
HP:0000733HP:0100023Recurrent hand flapping1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000733HP:0001483Eye poking1RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0000733HP:0012171Stereotypical hand wringing1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000733HP:0100703Tongue thrusting1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000733HP:0030218Punding1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0000733HP:0012171Stereotypical hand wringing1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0000733HP:0100703Tongue thrusting1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0000733HP:0008762Repetitive compulsive behavior1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000733HP:0100023Recurrent hand flapping1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000733HP:0008762Repetitive compulsive behavior1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0000733HP:0100023Recurrent hand flapping1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000733HP:0100023Recurrent hand flapping1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000733HP:0008762Repetitive compulsive behavior1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000733HP:0008762Repetitive compulsive behavior1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000733HP:0100023Recurrent hand flapping1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0000733HP:0100703Tongue thrusting1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0000733HP:0100703Tongue thrusting1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000733HP:0100023Recurrent hand flapping1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0000733HP:0100703Tongue thrusting1UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0000733HP:0012171Stereotypical hand wringing1VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000733HP:0008762Repetitive compulsive behavior1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000733HP:0012172Stereotypical body rocking1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000733HP:0012171Stereotypical hand wringing1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216


Genes (224) :ADGRL1 ADNP AFF2 AFF3 ALKBH8 AP4B1 AP4E1 AP4M1 AP4S1 ARID2 ARPC4 ASH1L ASXL3 ATRX AUTS2 BCORL1 BICRA BRAF C9ORF72 CABP4 CACNA1H CAMTA1 CASZ1 CDK19 CDKL5 CELF2 CEP85L CERT1 CHAMP1 CHD1 CHD3 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CLCN3 CNTNAP2 CPLX1 CRB1 CREBBP CRH CTBP1 DDC DDX6 DEAF1 DEPDC5 DHPS DLL1 DNAJC19 DOCK7 DPAGT1 DPF2 DPYSL5 DYRK1A EBF3 EEF1A2 EHMT1 ELP2 EP300 EXT2 EXTL3 FBXO28 FBXW11 FGFRL1 FLCN FLII FMR1 FOXG1 FOXP1 GABBR2 GABRA1 GABRB3 GABRD GABRG2 GJA5 GJA8 GLYCTK GNAI1 GNB2 GRIA2 GRIK2 GRIN1 GRIN2A GRN GUCY2D H4C5 HDAC4 HECW2 HERC2 HNRNPH2 HNRNPR HSPG2 HUWE1 IFNG IQSEC2 JRK KAT5 KAT6A KCNAB2 KCNB1 KCNN2 KCNT1 KIF15 KIF5C KMT2A KMT5B KPTN KYNU LARP7 LETM1 LMNB1 LUZP1 MACF1 MADD MAPT MBD5 MECP2 MEF2C MGAT2 MMP23B NAA10 NAA15 NAA20 NACC1 NAGS NAPB NARS1 NAT8L NDP NEXMIF NLGN3 NLGN4X NMNAT1 NOVA2 NPC2 NR2F1 NSD2 NTNG1 NTNG2 NTRK2 OCA2 OCRL OPHN1 PDE2A PDPN PDZD8 PGAP1 POGZ POLA1 PPP2R5D PRDM16 PRKAR1B PRKCZ PRODH PSEN1 PUF60 PUS7 RAB11B RAB39B RAC1 RAI1 RBL2 RERE RPE65 RTTN SATB1 SCN1A SH2B1 SHANK3 SHMT2 SIK1 SKI SLC1A4 SLC2A1 SLC6A8 SLC9A6 SMARCA2 SMC1A SNRPN SOX5 SPATA5 SPEN SPTBN1 SQSTM1 SYNGAP1 SYT1 TANC2 TAOK1 TARDBP TBC1D23 TBCD TBR1 TBX1 TCF20 TCF4 TFE3 THOC2 TKT TMEM106B TMEM222 TMEM67 TRAPPC6B TRAPPC9 TREM2 TRIM8 TRIO TSC1 TSC2 TTI2 TUBB3 UBE3A UBE4B VAMP2 VARS1 VCP WDR26 WDR4 ZBTB18 ZBTB20 ZEB2 ZMYM2 ZNF526

Diseases (219) :OMIM:620065 OMIM:615873 ORPHA:100973 OMIM:309548 OMIM:619297 OMIM:618504 ORPHA:280763 OMIM:617808 OMIM:620141 OMIM:617796 ORPHA:352577 OMIM:615485 OMIM:301040 ORPHA:352490 OMIM:301029 OMIM:619325 OMIM:115150 ORPHA:275864 ORPHA:98784 ORPHA:64280 OMIM:614756 ORPHA:1606 OMIM:618916 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:619561 ORPHA:572013 OMIM:616351 OMIM:616579 ORPHA:529965 OMIM:618205 OMIM:615032 OMIM:600795 OMIM:617600 OMIM:619512 ORPHA:163681 OMIM:610042 OMIM:194190 OMIM:613835 ORPHA:353281 ORPHA:353277 OMIM:608643 OMIM:618653 ORPHA:819 OMIM:618480 OMIM:618709 ORPHA:66634 ORPHA:411986 ORPHA:86309 OMIM:618027 OMIM:619435 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:617330 OMIM:616393 OMIM:610253 OMIM:617270 ORPHA:353284 OMIM:616682 ORPHA:508533 OMIM:619777 OMIM:618914 OMIM:610883 OMIM:300624 ORPHA:449291 ORPHA:261144 OMIM:613454 ORPHA:391372 OMIM:613670 OMIM:612474 OMIM:220120 OMIM:619854 OMIM:619503 OMIM:618917 OMIM:619580 ORPHA:208447 OMIM:617820 ORPHA:289266 OMIM:607485 OMIM:204000 OMIM:619950 ORPHA:1001 OMIM:617268 OMIM:615516 OMIM:300986 OMIM:620073 OMIM:309590 ORPHA:805 ORPHA:397933 OMIM:619103 OMIM:616268 OMIM:616056 OMIM:619725 ORPHA:261323 OMIM:615282 ORPHA:319182 OMIM:617788 ORPHA:397612 OMIM:615637 ORPHA:79155 ORPHA:319671 OMIM:619179 OMIM:619005 OMIM:172700 ORPHA:228402 OMIM:156200 OMIM:300496 OMIM:300260 ORPHA:778 OMIM:312750 ORPHA:228384 OMIM:613443 OMIM:212066 ORPHA:79329 OMIM:300855 OMIM:617787 OMIM:619717 OMIM:617393 ORPHA:500545 ORPHA:927 OMIM:620033 OMIM:619092 OMIM:614063 ORPHA:649 OMIM:300912 ORPHA:85277 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 OMIM:608553 OMIM:618859 OMIM:607625 ORPHA:401777 OMIM:619695 OMIM:618718 OMIM:617830 OMIM:613886 ORPHA:98794 OMIM:309000 ORPHA:534 OMIM:300486 OMIM:619150 OMIM:620021 OMIM:615802 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:457279 OMIM:619680 OMIM:239500 ORPHA:508498 OMIM:618342 OMIM:617807 OMIM:300271 OMIM:617751 ORPHA:500159 OMIM:182290 OMIM:619690 OMIM:204100 ORPHA:468631 OMIM:619229 OMIM:619317 ORPHA:261197 OMIM:606232 OMIM:619121 OMIM:616341 ORPHA:447997 OMIM:300352 ORPHA:85278 OMIM:619293 OMIM:301044 OMIM:209850 ORPHA:177907 ORPHA:313892 ORPHA:457351 OMIM:619312 OMIM:619475 ORPHA:544254 OMIM:618218 ORPHA:522077 OMIM:618906 OMIM:619575 OMIM:612069 OMIM:617695 ORPHA:496641 OMIM:606053 ORPHA:1727 OMIM:618430 OMIM:610954 OMIM:301066 ORPHA:457240 OMIM:617044 ORPHA:488618 OMIM:619470 OMIM:610688 OMIM:617862 OMIM:613192 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:615541 ORPHA:391307 ORPHA:300570 ORPHA:411511 ORPHA:98795 OMIM:618760 OMIM:617802 ORPHA:513456 OMIM:618347 OMIM:612337 OMIM:259050 ORPHA:261552 ORPHA:261537 OMIM:619522 OMIM:619877
 

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