Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Echolalia (HP:0010529)help
Term ID: 10529
Name: Echolalia
Synonym: Echoing another person's speech; Echologia; Echophrasia; Repeated speech
Definition: The tendency to repeat vocalizations made by another person.
Comments:
Reference: HP:0010529
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
..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
..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:0010529HP:0010529Echolalia0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0010529HP:0010529Echolalia0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0010529HP:0010529Echolalia0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0010529HP:0010529Echolalia0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0010529HP:0010529Echolalia0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0010529HP:0010529Echolalia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0010529HP:0010529Echolalia0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0010529HP:0010529Echolalia0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0010529HP:0010529Echolalia0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0010529HP:0010529Echolalia0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0010529HP:0010529Echolalia0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0010529HP:0010529Echolalia0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent243
HP:0010529HP:0010529Echolalia0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0010529HP:0010529Echolalia0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0010529HP:0010529Echolalia0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0010529HP:0010529Echolalia0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0010529HP:0010529Echolalia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0010529HP:0010529Echolalia0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0010529HP:0010529Echolalia0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0010529HP:0010529Echolalia0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0010529HP:0010529Echolalia0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0010529HP:0010529Echolalia0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0010529HP:0010529Echolalia0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0010529HP:0010529Echolalia0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0010529HP:0010529Echolalia0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0010529HP:0010529Echolalia0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0010529HP:0010529Echolalia0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0010529HP:0010529Echolalia0PDZD8 CL E G H11898726974OMIM:620021
HP:0010529HP:0010529Echolalia0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0010529HP:0010529Echolalia0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0010529HP:0010529Echolalia0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0010529HP:0010529Echolalia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0010529HP:0010529Echolalia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0010529HP:0010529Echolalia0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0010529HP:0010529Echolalia0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0010529HP:0010529Echolalia0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0010529HP:0010529Echolalia0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0010529HP:0010529Echolalia0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0010529HP:0010529Echolalia0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010529HP:0010529Echolalia0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0010529HP:0010529Echolalia0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0010529HP:0010529Echolalia0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0010529HP:0010529Echolalia0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0010529HP:0010529Echolalia0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0010529HP:0010529Echolalia0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0010529HP:0010529Echolalia0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63


Genes (43) :ACTB ACTG1 ADAMTS2 ADAMTSL2 AMER1 ATP6AP2 C9ORF72 CHD8 CHMP2B CKAP2L COL1A1 COL1A2 COX7B CYLD EHMT1 FGFR1 FLCN GRIK2 GRN HCCS HDC HERC2 KRAS MAPT NAGS NDUFB11 PDZD8 PLEC PSEN1 PUF60 RAI1 SLC25A13 SLC35C1 SLITRK1 SMARCA2 SNAP25 SPTBN1 SQSTM1 TCF4 TMEM106B TREM2 UBE2A VCP

Diseases (30) :ORPHA:2995 ORPHA:1901 ORPHA:2780 ORPHA:93952 ORPHA:275864 OMIM:615032 ORPHA:3255 ORPHA:1899 ORPHA:2556 OMIM:619132 ORPHA:96147 ORPHA:2396 OMIM:610883 OMIM:619580 OMIM:137580 OMIM:615516 OMIM:172700 ORPHA:927 OMIM:620021 ORPHA:257 ORPHA:508488 ORPHA:1713 ORPHA:247585 OMIM:266265 ORPHA:3051 OMIM:616330 OMIM:619475 ORPHA:2896 OMIM:300860 ORPHA:163956
 

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