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]
------------------------------------------------------------------------------------

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.