Disease #00821 (MRXSH (mental retardation, X-linked, syndromic, Hedera type (MRXSH)), OMIM:300423)

Official abbreviation MRXSH
Name mental retardation, X-linked, syndromic, Hedera type (MRXSH)
OMIM ID 300423
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATP6AP2
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

1 entry on 1 page. Showing entry 1.
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     
00132794 15746149-FamK8355 PubMed: Ramser 2005 3-generation family, 7 affected males M no - - - - - - MRXSH see paper; ..., X-linked mental retardation, epilepsy ATP6AP2 ATP6AP2 1 7 Johan den Dunnen
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.