Details of Disease | DrugMAP

General Information of Disease (ID: DIS8Q6SX)

Disease Name	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Definition	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DIS8Q6SX: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Disease Identifiers	MONDO ID MONDO_0015745 UMLS CUI C4750772 MedGen ID 1653942 Orphanet ID 171703 SNOMED CT ID 773305003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EOMES	OTB9VQFA	Supportive	Autosomal recessive	[1]
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References

1	Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet. 2007 Apr;39(4):454-6. doi: 10.1038/ng1993. Epub 2007 Mar 11.