| Metadata | |
|---|---|
| ID | DOID:0111262 |
| Name | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| Definition | A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. https://www.ncbi.nlm.nih.gov/pubmed/20950787 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
postnatal progressive microcephaly, seizures, and brain atrophy [EXACT] |
| Parent Relationships |
is_a brain disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |