Term Name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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 )

Relationships
is a type of: autosomal recessive disease brain disease