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
..expand
Scanning speech (HP:0002168)help
Term ID: 2168
Name: Scanning speech
Synonym: Explosive speech
Definition: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
Comments:
Reference: HP:0002168
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
..expandDysphasia (HP:0002357) 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
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002168HP:0002168Scanning speech0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0002168HP:0002168Scanning speech0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0002168HP:0002168Scanning speech0CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0002168HP:0002168Scanning speech0CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0002168HP:0002168Scanning speech0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0002168HP:0002168Scanning speech0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0002168HP:0002168Scanning speech0DAB1 CL E G H1600363710ORPHA1812661603448
HP:0002168HP:0002168Scanning speech0DAB1 CL E G H1600363710ORPHA1802661603448
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA19696180147265
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18956180147265
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0002168HP:0002168Scanning speech0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA16328620607108
HP:0002168HP:0002168Scanning speech0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA15778620607108
HP:0002168HP:0002168Scanning speech0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0002168HP:0002168Scanning speech0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0002168HP:0002168Scanning speech0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM180816268603197
HP:0002168HP:0002168Scanning speech0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM166916268603197
HP:0002168HP:0002168Scanning speech0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0002168HP:0002168Scanning speech0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0002168HP:0002168Scanning speech0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM118625186616101
HP:0002168HP:0002168Scanning speech0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM117625186616101
HP:0002168HP:0002168Scanning speech0TPP1 CL E G H1200284324ORPHA17452073607998
HP:0002168HP:0002168Scanning speech0TPP1 CL E G H1200284324ORPHA16452073607998
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (12) :ATXN1 ATXN10 CCDC88C COQ2 DAB1 ITPR1 PAX6 PLP1 PNPLA6 SACS TMEM240 TPP1

Diseases (13) :164400 98761 603516 423275 607426 363710 1065 606658 312080 215470 270550 607454 284324
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.