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Human Disease

infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Term ID
DOID:0111262
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models