Term Name: | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
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Synonyms: | postnatal progressive microcephaly, seizures, and brain atrophy |
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. |
Ontology: | Human Disease [DOID:0111262] ( DOID:0111262 ) |