| Metadata | |
|---|---|
| ID | DOID:0112381 |
| Name | muscular dystrophy-dystroglycanopathy type C12 |
| Definition | A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24925318/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD due to POMK deficiency [EXACT] Limb-girdle muscular dystrophy due to POMK deficiency [EXACT] MDDGC12 [EXACT] muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |