ZFIN Human Disease: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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:	GARD:10995 OMIM:613668 ORDO:402364
Ontology:	Human Disease ( DOID:0111262 )

Relationships

is a type of:	autosomal recessive disease brain disease autosomal recessive disease brain disease Show first 5 Terms

OTHER infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MED17	med17	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None