FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ID (Ontology) DOID:0111262 (Human Disease)
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.
Also Known As "postnatal progressive microcephaly, seizures, and brain atrophy"
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 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly       1
 for disease ribbon | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly       1
 model of | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
central nervous system disease   |
 |__brain disease________________|
                                 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  1 rec.
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Is a autosomal recessive disease
brain disease
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Synonyms
  • "postnatal progressive microcephaly, seizures, and brain atrophy" EXACT
Secondary IDs
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GARD:10995
MIM:613668
ORDO:402364