| Metadata | |
|---|---|
| ID | DOID:0080197 |
| Name | congenital muscular dystrophy with cataracts and intellectual disability |
| Definition | A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/28190459 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy with cataracts and impaired intellectual development [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |