Disease #00810 (MRD13 (mental retardation, autosomal dominant, type 13 (MRD13)), OMIM:614563)

Official abbreviation MRD13
Name mental retardation, autosomal dominant, type 13 (MRD13)
OMIM ID 614563
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene DYNC1H1
Associated tissues -
Disease features -
Remarks -


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     
00080905 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - MRD13 Mental retardation, autosomal dominant 13 (OMIM:614563) DYNC1H1 DYNC1H1 1 1 Daniel Trujillano
Legend   How to query