OBO ID: DOID:0111262
Term Name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/20950787
References:
Ontology: Human Disease   (DOID:0111262)
OTHER infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy 613668
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None