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
..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
..expandStuttering (HP:0025268) 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:0002168HP:0002168Scanning speech0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0002168HP:0002168Scanning speech0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0002168HP:0002168Scanning speech0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002168HP:0002168Scanning speech0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0002168HP:0002168Scanning speech0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0002168HP:0002168Scanning speech0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040282 - Frequent177
HP:0002168HP:0002168Scanning speech0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0002168HP:0002168Scanning speech0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040282 - Frequent194
HP:0002168HP:0002168Scanning speech0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease.60
HP:0002168HP:0002168Scanning speech0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0002168HP:0002168Scanning speech0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0002168HP:0002168Scanning speech0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002168HP:0002168Scanning speech0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203


Genes (13) :ATXN1 ATXN10 CCDC88C COQ2 CP DAB1 ITPR1 PAX6 PLP1 PNPLA6 SACS TMEM240 TPP1

Diseases (14) :OMIM:164400 OMIM:603516 ORPHA:98761 ORPHA:423275 OMIM:607426 OMIM:604290 ORPHA:363710 ORPHA:1065 OMIM:606658 OMIM:312080 OMIM:215470 OMIM:270550 OMIM:607454 ORPHA:284324
 

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