Disease #02155 (AUTSX1 (autism, susceptibility to, X-linked, type 1 (AUTSX-1)), OMIM:300425)

Official abbreviation AUTSX1
Name autism, susceptibility to, X-linked, type 1 (AUTSX-1)
OMIM ID 300425
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene NLGN3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00375233 181067 - - M ? - - - - - - AUTSX1 (+) Autism,(+) Autistic behavior,(+) Delayed speech and language development,(+) Global developmental delay,(+) Neurological speech impairment,(+) EEG abnormality,(+) Poor speech,(+) Expressive language delay,(+) Abnormality of higher mental function,(+) Abnormality of central nervous system electrophysiology,(+) Cognitive impairment PTCHD1 PTCHD1 1 1 Andreas Laner
00428414 175065 - - M no Germany - - - - - AUTSX1 Global developmental delay, Delayed speech and language development NLGN3 NLGN3 1 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.