infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Summary

DOID:0111262 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Disease Ontology 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.

Synonyms: postnatal progressive microcephaly, seizures, and brain atrophy,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: med17

OMIM:

OMIM:613668 - MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY

OMIM:613668 - MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), brain disease (is_a)