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

• GARD:10995
• OMIM:613668
• ORDO:402364

Ontology

Human Disease   ( DOID:0111262 )