Disease #00789

Official abbreviation CANPMR
Name ataxia, cerebellar, nonprogressive, with mental retardation (CANPMR)
OMIM ID 614756
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 0
Associated with 1 gene CAMTA1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00226096 - - - M - - - - 0 - - CANPMR - CAMTA1 CAMTA1 1 1 Maartje Pennings
00226097 - - - F no - - - 0 - - CANPMR - - CAMTA1 1 1 Maartje Pennings
00226099 - - - F no - - - 0 - - CANPMR - - CAMTA1 1 1 Maartje Pennings
Legend