Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Stuttering (HP:0025268)help
Term ID: 25268
Name: Stuttering
Synonym: Stammering; Stuttering
Definition: Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.
Comments:
Reference: HP:0025268
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) 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:0025268HP:0025268Stuttering0AP4E1 CL E G H23431573OMIM:184450Stuttering, familial persistent, 1.48
HP:0025268HP:0025268Stuttering0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0025268HP:0025268Stuttering0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0025268HP:0025268Stuttering0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0025268HP:0025268Stuttering0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0025268HP:0025268Stuttering0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0025268HP:0025268Stuttering0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040281 - Very frequent140
HP:0025268HP:0025268Stuttering0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0025268HP:0025268Stuttering0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0025268HP:0025268Stuttering0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0025268HP:0025268Stuttering0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0025268HP:0025268Stuttering0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional


Genes (23) :AP4E1 CHD3 COX1 COX2 COX3 HEXB KANSL1 LAS1L MAPT ND1 ND4 ND5 ND6 NEXMIF NSD1 SCYL1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (11) :OMIM:184450 OMIM:618205 ORPHA:550 ORPHA:309169 ORPHA:363958 ORPHA:363965 OMIM:309585 ORPHA:240112 OMIM:300912 OMIM:117550 ORPHA:466794
 

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