Disease #00935 (Birk-Barel mental retardation dysmorphism syndrome, OMIM:612292)

Official abbreviation -
Name Birk-Barel mental retardation dysmorphism syndrome
OMIM ID 612292
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene KCNK9
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     
00401509 122P - - M no Spain - - - - - ID, Birk-Barel mental retardation dysmorphism syndrome - - KCNK9 1 1 Alejandro Brea-Fernández
Legend   How to query