Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Involuntary movements (HP:0004305)help
..Starting node
..expand
Stereotypy (HP:0000733)help
Term ID: 733
Name: 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000733HP:0000733Stereotypy0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0000733Stereotypy0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0000733Stereotypy0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0000733Stereotypy0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0000733Stereotypy0C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0000733Stereotypy0C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0000733Stereotypy0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0000733Stereotypy0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0000733Stereotypy0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0000733Stereotypy0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0000733Stereotypy0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0000733Stereotypy0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0000733Stereotypy0CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0000733Stereotypy0CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0000733Stereotypy0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0000733Stereotypy0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0000733Stereotypy0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0000733Stereotypy0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0000733Stereotypy0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0000733Stereotypy0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0000733Stereotypy0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0000733Stereotypy0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0000733Stereotypy0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0000733Stereotypy0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0000733Stereotypy0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0000733Stereotypy0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0000733Stereotypy0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0000733Stereotypy0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0000733Stereotypy0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0000733Stereotypy0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0000733Stereotypy0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0000733Stereotypy0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0000733Stereotypy0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0000733Stereotypy0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0000733Stereotypy0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0000733Stereotypy0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0000733Stereotypy0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0000733Stereotypy0FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0000733Stereotypy0FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0000733Stereotypy0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0000733Stereotypy0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0000733Stereotypy0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0000733Stereotypy0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0000733Stereotypy0GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0000733Stereotypy0GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0000733Stereotypy0GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0000733Stereotypy0GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0000733Stereotypy0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0000733Stereotypy0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0000733Stereotypy0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0000733Stereotypy0KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0000733Stereotypy0KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0000733Stereotypy0KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0000733Stereotypy0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0000733Stereotypy0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0000733Stereotypy0KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0000733Stereotypy0KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0000733Stereotypy0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0000733Stereotypy0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0000733Stereotypy0MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0000733Stereotypy0MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0000733Stereotypy0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0000733Stereotypy0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0000733Stereotypy0MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0000733Stereotypy0MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0000733Stereotypy0MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0000733Stereotypy0MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0000733Stereotypy0MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0000733Stereotypy0MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0000733Stereotypy0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0000733Stereotypy0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0000733Stereotypy0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0000733Stereotypy0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0000733Stereotypy0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0000733Stereotypy0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0000733Stereotypy0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0000733Stereotypy0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0000733Stereotypy0NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0000733Stereotypy0NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0000733Stereotypy0NEXMIF CL E G H34053385277ORPHA173629433300524
HP:0000733HP:0000733Stereotypy0NEXMIF CL E G H34053385277ORPHA165029433300524
HP:0000733HP:0000733Stereotypy0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0000733HP:0000733Stereotypy0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0000733HP:0000733Stereotypy0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM136114287300427
HP:0000733HP:0000733Stereotypy0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM137014287300427
HP:0000733HP:0000733Stereotypy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0000733HP:0000733Stereotypy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0000733HP:0000733Stereotypy0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM124912766602952
HP:0000733HP:0000733Stereotypy0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM126212766602952
HP:0000733HP:0000733Stereotypy0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0000733HP:0000733Stereotypy0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0000733HP:0000733Stereotypy0NTRK2 CL E G H4915613886Obesity, hyperphagia, and developmental delay613886C3151303OMIM11168032600456
HP:0000733HP:0000733Stereotypy0NTRK2 CL E G H4915613886Obesity, hyperphagia, and developmental delay613886C3151303OMIM12028032600456
HP:0000733HP:0000733Stereotypy0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000733HP:0000733Stereotypy0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000733HP:0000733Stereotypy0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14258108300535
HP:0000733HP:0000733Stereotypy0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14758108300535
HP:0000733HP:0000733Stereotypy0PRDM16 CL E G H639761606ORPHA198614000605557
HP:0000733HP:0000733Stereotypy0PRDM16 CL E G H639761606ORPHA188614000605557
HP:0000733HP:0000733Stereotypy0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM15939453606810
HP:0000733HP:0000733Stereotypy0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM16199453606810
HP:0000733HP:0000733Stereotypy0PSEN1 CL E G H5663275864ORPHA14319508104311
HP:0000733HP:0000733Stereotypy0PSEN1 CL E G H5663275864ORPHA14089508104311
HP:0000733HP:0000733Stereotypy0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14089508104311
HP:0000733HP:0000733Stereotypy0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM14319508104311
HP:0000733HP:0000733Stereotypy0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0000733HP:0000733Stereotypy0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0000733HP:0000733Stereotypy0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM129116499300774
HP:0000733HP:0000733Stereotypy0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM130316499300774
HP:0000733HP:0000733Stereotypy0RAI1 CL E G H10743819ORPHA18069834607642
HP:0000733HP:0000733Stereotypy0RAI1 CL E G H10743819ORPHA15159834607642
HP:0000733HP:0000733Stereotypy0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0000733HP:0000733Stereotypy0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0000733HP:0000733Stereotypy0RERE CL E G H4731606ORPHA12579965605226
HP:0000733HP:0000733Stereotypy0RERE CL E G H4731606ORPHA12299965605226
HP:0000733HP:0000733Stereotypy0SKI CL E G H64971606ORPHA168610896164780
HP:0000733HP:0000733Stereotypy0SKI CL E G H64971606ORPHA162910896164780
HP:0000733HP:0000733Stereotypy0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM171611055300036
HP:0000733HP:0000733Stereotypy0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM177011055300036
HP:0000733HP:0000733Stereotypy0SLC9A6 CL E G H1047985278ORPHA148711079300231
HP:0000733HP:0000733Stereotypy0SLC9A6 CL E G H1047985278ORPHA144711079300231
HP:0000733HP:0000733Stereotypy0SMC1A CL E G H8243319182ORPHA169011111300040
HP:0000733HP:0000733Stereotypy0SMC1A CL E G H8243319182ORPHA163511111300040
HP:0000733HP:0000733Stereotypy0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139711164182279
HP:0000733HP:0000733Stereotypy0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM139811164182279
HP:0000733HP:0000733Stereotypy0SQSTM1 CL E G H8878275864ORPHA147311280601530
HP:0000733HP:0000733Stereotypy0SQSTM1 CL E G H8878275864ORPHA138311280601530
HP:0000733HP:0000733Stereotypy0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM14411509185605
HP:0000733HP:0000733Stereotypy0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM13911509185605
HP:0000733HP:0000733Stereotypy0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM121411571605078
HP:0000733HP:0000733Stereotypy0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM122511571605078
HP:0000733HP:0000733Stereotypy0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0000733HP:0000733Stereotypy0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0000733HP:0000733Stereotypy0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM14611834606781
HP:0000733HP:0000733Stereotypy0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM14011834606781
HP:0000733HP:0000733Stereotypy0TMEM106B CL E G H54664275864ORPHA17422407613413
HP:0000733HP:0000733Stereotypy0TMEM106B CL E G H54664275864ORPHA16222407613413
HP:0000733HP:0000733Stereotypy0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM14423066610397
HP:0000733HP:0000733Stereotypy0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM13923066610397
HP:0000733HP:0000733Stereotypy0TREM2 CL E G H54209275864ORPHA19417761605086
HP:0000733HP:0000733Stereotypy0TREM2 CL E G H54209275864ORPHA16417761605086
HP:0000733HP:0000733Stereotypy0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM110326262614426
HP:0000733HP:0000733Stereotypy0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM19626262614426
HP:0000733HP:0000733Stereotypy0VCP CL E G H7415275864ORPHA139512666601023
HP:0000733HP:0000733Stereotypy0VCP CL E G H7415275864ORPHA135612666601023
HP:0000733HP:0000733Stereotypy0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000733HP:0008762Repetitive compulsive behavior1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0012171Stereotypical hand wringing1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0030218Punding1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0012171Stereotypical hand wringing1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0030218Punding1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0008762Repetitive compulsive behavior1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0012172Stereotypical body rocking1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0100703Tongue thrusting1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0001483Eye poking1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0100023Recurrent hand flapping1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000733HP:0012172Stereotypical body rocking1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0100703Tongue thrusting1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0001483Eye poking1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0100023Recurrent hand flapping1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000733HP:0008762Repetitive compulsive behavior1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0012171Stereotypical hand wringing1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0030218Punding1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0008762Repetitive compulsive behavior1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0012171Stereotypical hand wringing1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0030218Punding1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0012172Stereotypical body rocking1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0100703Tongue thrusting1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0001483Eye poking1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0100023Recurrent hand flapping1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000733HP:0012172Stereotypical body rocking1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0100703Tongue thrusting1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0001483Eye poking1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0100023Recurrent hand flapping1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000733HP:0100703Tongue thrusting1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0001483Eye poking1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0100023Recurrent hand flapping1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0012172Stereotypical body rocking1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0012171Stereotypical hand wringing1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0030218Punding1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0008762Repetitive compulsive behavior1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0012171Stereotypical hand wringing1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0030218Punding1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0008762Repetitive compulsive behavior1C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0000733HP:0100703Tongue thrusting1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0001483Eye poking1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0100023Recurrent hand flapping1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0012172Stereotypical body rocking1C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0000733HP:0008762Repetitive compulsive behavior1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0012171Stereotypical hand wringing1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0030218Punding1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0100023Recurrent hand flapping1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0012172Stereotypical body rocking1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0100703Tongue thrusting1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0001483Eye poking1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0012172Stereotypical body rocking1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0100703Tongue thrusting1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0001483Eye poking1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0100023Recurrent hand flapping1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0000733HP:0008762Repetitive compulsive behavior1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0012171Stereotypical hand wringing1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0030218Punding1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0000733HP:0008762Repetitive compulsive behavior1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0012171Stereotypical hand wringing1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0030218Punding1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0008762Repetitive compulsive behavior1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0012171Stereotypical hand wringing1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0030218Punding1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0100023Recurrent hand flapping1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0012172Stereotypical body rocking1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0100703Tongue thrusting1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0001483Eye poking1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000733HP:0100023Recurrent hand flapping1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0012172Stereotypical body rocking1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0100703Tongue thrusting1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0001483Eye poking1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000733HP:0030218Punding1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0008762Repetitive compulsive behavior1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0012171Stereotypical hand wringing1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0030218Punding1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0008762Repetitive compulsive behavior1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0012171Stereotypical hand wringing1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0001483Eye poking1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0100023Recurrent hand flapping1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0012172Stereotypical body rocking1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0100703Tongue thrusting1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0000733HP:0001483Eye poking1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0100023Recurrent hand flapping1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0012172Stereotypical body rocking1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0100703Tongue thrusting1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0000733HP:0001483Eye poking1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0100023Recurrent hand flapping1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0012172Stereotypical body rocking1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0100703Tongue thrusting1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0030218Punding1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0008762Repetitive compulsive behavior1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0012171Stereotypical hand wringing1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0030218Punding1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0008762Repetitive compulsive behavior1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0012171Stereotypical hand wringing1CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0000733HP:0100703Tongue thrusting1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0001483Eye poking1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0100023Recurrent hand flapping1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0012172Stereotypical body rocking1CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0000733HP:0030218Punding1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0008762Repetitive compulsive behavior1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0012171Stereotypical hand wringing1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0001483Eye poking1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0100023Recurrent hand flapping1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0012172Stereotypical body rocking1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0100703Tongue thrusting1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0001483Eye poking1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0100023Recurrent hand flapping1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0012172Stereotypical body rocking1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0100703Tongue thrusting1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000733HP:0030218Punding1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0008762Repetitive compulsive behavior1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0012171Stereotypical hand wringing1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000733HP:0030218Punding1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0008762Repetitive compulsive behavior1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0012171Stereotypical hand wringing1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0100023Recurrent hand flapping1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0012172Stereotypical body rocking1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0100703Tongue thrusting1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0001483Eye poking1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0100023Recurrent hand flapping1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0012172Stereotypical body rocking1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0100703Tongue thrusting1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0001483Eye poking1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000733HP:0030218Punding1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0008762Repetitive compulsive behavior1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0012171Stereotypical hand wringing1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000733HP:0008762Repetitive compulsive behavior1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0100023Recurrent hand flapping1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0100703Tongue thrusting1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0030218Punding1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0012171Stereotypical hand wringing1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0001483Eye poking1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0012172Stereotypical body rocking1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000733HP:0008762Repetitive compulsive behavior1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0012171Stereotypical hand wringing1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0030218Punding1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0100023Recurrent hand flapping1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0012172Stereotypical body rocking1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0100703Tongue thrusting1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0001483Eye poking1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0100023Recurrent hand flapping1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0012172Stereotypical body rocking1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0100703Tongue thrusting1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0001483Eye poking1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000733HP:0030218Punding1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0008762Repetitive compulsive behavior1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0012171Stereotypical hand wringing1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000733HP:0030218Punding1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0008762Repetitive compulsive behavior1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0012171Stereotypical hand wringing1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0100703Tongue thrusting1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0001483Eye poking1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0100023Recurrent hand flapping1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0012172Stereotypical body rocking1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0001483Eye poking1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0100023Recurrent hand flapping1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0012172Stereotypical body rocking1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0100703Tongue thrusting1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000733HP:0030218Punding1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0008762Repetitive compulsive behavior1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0012171Stereotypical hand wringing1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000733HP:0008762Repetitive compulsive behavior1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0012171Stereotypical hand wringing1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0030218Punding1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0100023Recurrent hand flapping1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0012172Stereotypical body rocking1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0100703Tongue thrusting1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0001483Eye poking1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0012172Stereotypical body rocking1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0100703Tongue thrusting1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0001483Eye poking1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0100023Recurrent hand flapping1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000733HP:0008762Repetitive compulsive behavior1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0012171Stereotypical hand wringing1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0030218Punding1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000733HP:0012171Stereotypical hand wringing1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0030218Punding1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0008762Repetitive compulsive behavior1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0012171Stereotypical hand wringing1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0030218Punding1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0008762Repetitive compulsive behavior1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0012172Stereotypical body rocking1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0100703Tongue thrusting1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0001483Eye poking1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0100023Recurrent hand flapping1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000733HP:0100703Tongue thrusting1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0001483Eye poking1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0100023Recurrent hand flapping1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0012172Stereotypical body rocking1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000733HP:0030218Punding1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0008762Repetitive compulsive behavior1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0012171Stereotypical hand wringing1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0030218Punding1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0008762Repetitive compulsive behavior1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0012171Stereotypical hand wringing1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0100703Tongue thrusting1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0001483Eye poking1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0100023Recurrent hand flapping1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0012172Stereotypical body rocking1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0000733HP:0100703Tongue thrusting1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0001483Eye poking1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0100023Recurrent hand flapping1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0012172Stereotypical body rocking1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0000733HP:0008762Repetitive compulsive behavior1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0012171Stereotypical hand wringing1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0030218Punding1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0100023Recurrent hand flapping1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0012172Stereotypical body rocking1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0100703Tongue thrusting1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0001483Eye poking1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0012172Stereotypical body rocking1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0100703Tongue thrusting1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0001483Eye poking1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0100023Recurrent hand flapping1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0000733HP:0008762Repetitive compulsive behavior1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0012171Stereotypical hand wringing1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0030218Punding1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0000733HP:0030218Punding1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0008762Repetitive compulsive behavior1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0012171Stereotypical hand wringing1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0001483Eye poking1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0100023Recurrent hand flapping1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0012172Stereotypical body rocking1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0100703Tongue thrusting1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0001483Eye poking1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0100023Recurrent hand flapping1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0012172Stereotypical body rocking1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0100703Tongue thrusting1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000733HP:0030218Punding1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0008762Repetitive compulsive behavior1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0012171Stereotypical hand wringing1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000733HP:0012171Stereotypical hand wringing1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0030218Punding1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0008762Repetitive compulsive behavior1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0012172Stereotypical body rocking1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0100703Tongue thrusting1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0001483Eye poking1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0100023Recurrent hand flapping1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0012172Stereotypical body rocking1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0100703Tongue thrusting1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0001483Eye poking1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0100023Recurrent hand flapping1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000733HP:0012171Stereotypical hand wringing1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0030218Punding1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0008762Repetitive compulsive behavior1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000733HP:0012171Stereotypical hand wringing1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0030218Punding1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0008762Repetitive compulsive behavior1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0012172Stereotypical body rocking1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0100703Tongue thrusting1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0001483Eye poking1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0100023Recurrent hand flapping1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0012172Stereotypical body rocking1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0100703Tongue thrusting1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0001483Eye poking1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0100023Recurrent hand flapping1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000733HP:0008762Repetitive compulsive behavior1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0012171Stereotypical hand wringing1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0030218Punding1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000733HP:0012171Stereotypical hand wringing1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0030218Punding1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0008762Repetitive compulsive behavior1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0030218Punding1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0008762Repetitive compulsive behavior1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0012171Stereotypical hand wringing1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0100703Tongue thrusting1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0001483Eye poking1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0100023Recurrent hand flapping1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0012172Stereotypical body rocking1FLII CL E G H2314819ORPHA11583750600362
HP:0000733HP:0100703Tongue thrusting1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0001483Eye poking1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0100023Recurrent hand flapping1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0012172Stereotypical body rocking1FLII CL E G H2314819ORPHA11553750600362
HP:0000733HP:0012172Stereotypical body rocking1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0100703Tongue thrusting1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0001483Eye poking1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0100023Recurrent hand flapping1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0008762Repetitive compulsive behavior1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0012171Stereotypical hand wringing1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0030218Punding1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0012171Stereotypical hand wringing1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0030218Punding1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0008762Repetitive compulsive behavior1FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000733HP:0012172Stereotypical body rocking1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0100703Tongue thrusting1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0001483Eye poking1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0100023Recurrent hand flapping1FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000733HP:0030218Punding1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0008762Repetitive compulsive behavior1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0012171Stereotypical hand wringing1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0100703Tongue thrusting1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0001483Eye poking1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0100023Recurrent hand flapping1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0012172Stereotypical body rocking1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0100703Tongue thrusting1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0001483Eye poking1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0100023Recurrent hand flapping1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0012172Stereotypical body rocking1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000733HP:0030218Punding1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0008762Repetitive compulsive behavior1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0012171Stereotypical hand wringing1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000733HP:0030218Punding1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0008762Repetitive compulsive behavior1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0012171Stereotypical hand wringing1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0008762Repetitive compulsive behavior1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0012171Stereotypical hand wringing1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0030218Punding1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0100023Recurrent hand flapping1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0012172Stereotypical body rocking1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0100703Tongue thrusting1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0001483Eye poking1GABRD CL E G H25631606ORPHA13614084137163
HP:0000733HP:0100023Recurrent hand flapping1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0012172Stereotypical body rocking1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0100703Tongue thrusting1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0001483Eye poking1GABRD CL E G H25631606ORPHA13404084137163
HP:0000733HP:0001483Eye poking1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0100023Recurrent hand flapping1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0012172Stereotypical body rocking1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0100703Tongue thrusting1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0030218Punding1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0008762Repetitive compulsive behavior1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0012171Stereotypical hand wringing1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0030218Punding1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0008762Repetitive compulsive behavior1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0012171Stereotypical hand wringing1GRN CL E G H2896275864ORPHA13024601138945
HP:0000733HP:0001483Eye poking1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0100023Recurrent hand flapping1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0012172Stereotypical body rocking1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0100703Tongue thrusting1GRN CL E G H2896275864ORPHA13584601138945
HP:0000733HP:0030218Punding1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0008762Repetitive compulsive behavior1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0012171Stereotypical hand wringing1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0030218Punding1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0008762Repetitive compulsive behavior1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0012171Stereotypical hand wringing1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0001483Eye poking1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0100023Recurrent hand flapping1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0012172Stereotypical body rocking1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0100703Tongue thrusting1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000733HP:0001483Eye poking1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0100023Recurrent hand flapping1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0012172Stereotypical body rocking1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0100703Tongue thrusting1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000733HP:0008762Repetitive compulsive behavior1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0012171Stereotypical hand wringing1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0030218Punding1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0008762Repetitive compulsive behavior1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0012171Stereotypical hand wringing1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0030218Punding1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0012172Stereotypical body rocking1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0100703Tongue thrusting1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0001483Eye poking1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0100023Recurrent hand flapping1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000733HP:0012172Stereotypical body rocking1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0100703Tongue thrusting1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0001483Eye poking1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0100023Recurrent hand flapping1KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000733HP:0100703Tongue thrusting1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0001483Eye poking1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0100023Recurrent hand flapping1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0012172Stereotypical body rocking1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0030218Punding1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0008762Repetitive compulsive behavior1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0012171Stereotypical hand wringing1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0030218Punding1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0008762Repetitive compulsive behavior1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0012171Stereotypical hand wringing1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000733HP:0100703Tongue thrusting1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0001483Eye poking1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0100023Recurrent hand flapping1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0012172Stereotypical body rocking1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000733HP:0008762Repetitive compulsive behavior1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0012171Stereotypical hand wringing1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0030218Punding1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0008762Repetitive compulsive behavior1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0012171Stereotypical hand wringing1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0030218Punding1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0100023Recurrent hand flapping1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0012172Stereotypical body rocking1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0100703Tongue thrusting1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0001483Eye poking1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000733HP:0100023Recurrent hand flapping1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0012172Stereotypical body rocking1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0100703Tongue thrusting1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0001483Eye poking1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000733HP:0001483Eye poking1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0100023Recurrent hand flapping1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0012172Stereotypical body rocking1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0100703Tongue thrusting1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0030218Punding1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0008762Repetitive compulsive behavior1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0012171Stereotypical hand wringing1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0030218Punding1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0008762Repetitive compulsive behavior1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0012171Stereotypical hand wringing1KYNU CL E G H894279155ORPHA1496469605197
HP:0000733HP:0100703Tongue thrusting1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0001483Eye poking1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0100023Recurrent hand flapping1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0012172Stereotypical body rocking1KYNU CL E G H894279155ORPHA1546469605197
HP:0000733HP:0030218Punding1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0008762Repetitive compulsive behavior1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0012171Stereotypical hand wringing1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0100703Tongue thrusting1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0001483Eye poking1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0100023Recurrent hand flapping1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0012172Stereotypical body rocking1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0100703Tongue thrusting1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0001483Eye poking1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0100023Recurrent hand flapping1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0012172Stereotypical body rocking1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000733HP:0012171Stereotypical hand wringing1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0030218Punding1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0008762Repetitive compulsive behavior1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000733HP:0001483Eye poking1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0100023Recurrent hand flapping1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0012172Stereotypical body rocking1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0100703Tongue thrusting1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0030218Punding1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0008762Repetitive compulsive behavior1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0012171Stereotypical hand wringing1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0030218Punding1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0008762Repetitive compulsive behavior1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0012171Stereotypical hand wringing1MAPT CL E G H4137275864ORPHA14656893157140
HP:0000733HP:0001483Eye poking1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0100023Recurrent hand flapping1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0012172Stereotypical body rocking1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0100703Tongue thrusting1MAPT CL E G H4137275864ORPHA14886893157140
HP:0000733HP:0012171Stereotypical hand wringing1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0030218Punding1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0008762Repetitive compulsive behavior1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0012172Stereotypical body rocking1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0100703Tongue thrusting1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0001483Eye poking1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0100023Recurrent hand flapping1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0012172Stereotypical body rocking1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0100703Tongue thrusting1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0001483Eye poking1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0100023Recurrent hand flapping1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14656893157140
HP:0000733HP:0012171Stereotypical hand wringing1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0030218Punding1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0008762Repetitive compulsive behavior1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM14886893157140
HP:0000733HP:0012172Stereotypical body rocking1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0100703Tongue thrusting1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0001483Eye poking1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0100023Recurrent hand flapping1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0008762Repetitive compulsive behavior1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0012171Stereotypical hand wringing1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0030218Punding1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0008762Repetitive compulsive behavior1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0012171Stereotypical hand wringing1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0030218Punding1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000733HP:0100023Recurrent hand flapping1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0012172Stereotypical body rocking1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0100703Tongue thrusting1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0001483Eye poking1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000733HP:0008762Repetitive compulsive behavior1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0012171Stereotypical hand wringing1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0030218Punding1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0008762Repetitive compulsive behavior1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0012171Stereotypical hand wringing1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0030218Punding1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0012172Stereotypical body rocking1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0100703Tongue thrusting1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0001483Eye poking1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0100023Recurrent hand flapping1MECP2 CL E G H4204778ORPHA116846990300005
HP:0000733HP:0012172Stereotypical body rocking1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0100703Tongue thrusting1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0001483Eye poking1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0100023Recurrent hand flapping1MECP2 CL E G H4204778ORPHA116036990300005
HP:0000733HP:0100023Recurrent hand flapping1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0012172Stereotypical body rocking1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0100703Tongue thrusting1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0001483Eye poking1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0030218Punding1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0008762Repetitive compulsive behavior1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0012171Stereotypical hand wringing1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0030218Punding1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0008762Repetitive compulsive behavior1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0012171Stereotypical hand wringing1MEF2C CL E G H4208228384ORPHA13396996600662
HP:0000733HP:0100023Recurrent hand flapping1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0012172Stereotypical body rocking1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0100703Tongue thrusting1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0001483Eye poking1MEF2C CL E G H4208228384ORPHA13636996600662
HP:0000733HP:0012171Stereotypical hand wringing1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0030218Punding1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0008762Repetitive compulsive behavior1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0100703Tongue thrusting1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0001483Eye poking1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0100023Recurrent hand flapping1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0012172Stereotypical body rocking1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0100703Tongue thrusting1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0001483Eye poking1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0100023Recurrent hand flapping1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0012172Stereotypical body rocking1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000733HP:0012171Stereotypical hand wringing1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0030218Punding1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0008762Repetitive compulsive behavior1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000733HP:0012171Stereotypical hand wringing1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0030218Punding1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0008762Repetitive compulsive behavior1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0012172Stereotypical body rocking1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0100703Tongue thrusting1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0001483Eye poking1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0100023Recurrent hand flapping1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0012172Stereotypical body rocking1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0100703Tongue thrusting1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0001483Eye poking1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0100023Recurrent hand flapping1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM133318704300013
HP:0000733HP:0012171Stereotypical hand wringing1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0030218Punding1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0008762Repetitive compulsive behavior1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM134818704300013
HP:0000733HP:0030218Punding1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0008762Repetitive compulsive behavior1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0012171Stereotypical hand wringing1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0030218Punding1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0008762Repetitive compulsive behavior1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0012171Stereotypical hand wringing1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0001483Eye poking1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0100023Recurrent hand flapping1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0012172Stereotypical body rocking1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0100703Tongue thrusting1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000733HP:0001483Eye poking1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0100023Recurrent hand flapping1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0012172Stereotypical body rocking1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0100703Tongue thrusting1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000733HP:0030218Punding1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0008762Repetitive compulsive behavior1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0012171Stereotypical hand wringing1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0001483Eye poking1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0100023Recurrent hand flapping1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0012172Stereotypical body rocking1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0100703Tongue thrusting1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0001483Eye poking1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0100023Recurrent hand flapping1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0012172Stereotypical body rocking1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0100703Tongue thrusting1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114326742610647
HP:0000733HP:0030218Punding1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0008762Repetitive compulsive behavior1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0012171Stereotypical hand wringing1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114726742610647
HP:0000733HP:0030218Punding1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0008762Repetitive compulsive behavior1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0012171Stereotypical hand wringing1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0008762Repetitive compulsive behavior1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0012171Stereotypical hand wringing1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0030218Punding1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0100023Recurrent hand flapping1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0012172Stereotypical body rocking1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0100703Tongue thrusting1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0001483Eye poking1NDP CL E G H4693649ORPHA12637678300658
HP:0000733HP:0100023Recurrent hand flapping1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0012172Stereotypical body rocking1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0100703Tongue thrusting1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0001483Eye poking1NDP CL E G H4693649ORPHA12457678300658
HP:0000733HP:0001483Eye poking1NEXMIF CL E G H34053385277ORPHA165029433300524
HP:0000733HP:0100023Recurrent hand flapping1NEXMIF CL E G H34053385277ORPHA165029433300524
HP:0000733HP:0012172Stereotypical body rocking1NEXMIF CL E G H34053385277ORPHA165029433300524
HP:0000733HP:0100703Tongue thrusting1NEXMIF CL E G H34053385277ORPHA165029433300524
HP:0000733HP:0030218Punding1NEXMIF CL E G H34053385277ORPHA173629433300524
HP:0000733HP:0008762Repetitive compulsive behavior1NEXMIF CL E G H34053385277ORPHA173629433300524
HP:0000733HP:0012171Stereotypical hand wringing1NEXMIF CL E G H34053385277ORPHA1