Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Motor stereotypy (HP:0000733)help
..Starting node
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Recurrent hand flapping (HP:0100023)help
Term ID: 100023
Name: Recurrent hand flapping
Synonym:
Definition: A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.
Comments:
Reference: HP:0100023
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEye poking (HP:0001483) help
..expandPunding (HP:0030218) help
..expandRepetitive compulsive behavior (HP:0008762) help
..expandStereotypical body rocking (HP:0012172) help
..expandStereotypical hand wringing (HP:0012171) help
..expandTongue thrusting (HP:0100703) 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:0100023HP:0100023Recurrent hand flapping0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0100023HP:0100023Recurrent hand flapping0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0100023HP:0100023Recurrent hand flapping0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0100023HP:0100023Recurrent hand flapping0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0100023HP:0100023Recurrent hand flapping0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0100023HP:0100023Recurrent hand flapping0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0100023HP:0100023Recurrent hand flapping0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0100023HP:0100023Recurrent hand flapping0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0100023HP:0100023Recurrent hand flapping0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0100023HP:0100023Recurrent hand flapping0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0100023HP:0100023Recurrent hand flapping0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0100023HP:0100023Recurrent hand flapping0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0100023HP:0100023Recurrent hand flapping0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0100023HP:0100023Recurrent hand flapping0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0100023HP:0100023Recurrent hand flapping0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0100023HP:0100023Recurrent hand flapping0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0100023HP:0100023Recurrent hand flapping0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100023HP:0100023Recurrent hand flapping0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0100023HP:0100023Recurrent hand flapping0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0100023HP:0100023Recurrent hand flapping0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0100023HP:0100023Recurrent hand flapping0PDZD8 CL E G H11898726974OMIM:620021
HP:0100023HP:0100023Recurrent hand flapping0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0100023HP:0100023Recurrent hand flapping0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0100023HP:0100023Recurrent hand flapping0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0100023HP:0100023Recurrent hand flapping0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0100023HP:0100023Recurrent hand flapping0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0100023HP:0100023Recurrent hand flapping0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278


Genes (23) :AFF2 ASXL3 CDK19 CHD8 CIC DHPS FMR1 GRIK2 HECW2 HERC2 HNRNPH2 KMT5B MBD5 NAA20 NEXMIF NOVA2 OCA2 PDZD8 PRKAR1B SYNGAP1 TRAPPC6B TRAPPC9 UBE3A

Diseases (26) :ORPHA:100973 OMIM:309548 ORPHA:352577 OMIM:615485 OMIM:618916 OMIM:615032 OMIM:617600 OMIM:618480 OMIM:300624 ORPHA:449291 OMIM:619580 OMIM:617268 OMIM:615516 OMIM:300986 OMIM:617788 OMIM:156200 OMIM:619717 OMIM:300912 OMIM:618859 ORPHA:98794 OMIM:620021 OMIM:619680 ORPHA:544254 OMIM:617862 OMIM:613192 ORPHA:411511
 

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