Disease #01677

Official abbreviation MCC1D
Name 3 methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
OMIM ID 210200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene MCCC1
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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     
00181032 - - - - - - - - - - - MCC1D - MCCC1 MCCC1 2 1 Maria Belen Perez Gonzalez
00181034 - - - - - - - - - - - MCC1D - MCCC1 MCCC1 2 1 Maria Belen Perez Gonzalez
00181035 - - - - - - - - - - - MCC1D - MCCC1 MCCC1 2 1 Maria Belen Perez Gonzalez
00181071 - - - - - - - - - - - MCC1D - MCCC1 MCCC1 1 1 Maria Belen Perez Gonzalez
Legend