Details of Disease

General Information of Disease (ID: DISKA7UB)

Disease Name Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Synonyms MCCCHCM; MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
Disease Hierarchy
DISYKSRF: Genetic disease
DISKA7UB: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Disease Identifiers
MONDO ID
MONDO_0032648
UMLS CUI
C4748927
OMIM ID
618273
MedGen ID
1648439

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
MAST1 OTEYFN5O Strong Autosomal dominant [1]
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References

1 Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.