Details of Disease

General Information of Disease (ID: DISV3YBR)

Disease Name Complex cortical dysplasia with other brain malformations 6
Synonyms
cortical dysplasia, complex, with other brain malformations 6; CDCBM6; CDCBM56; complex cortical dysplasia with other brain malformations type 6; TUBB complex cortical dysplasia with other brain malformations; cortical dysplasia, Complex, with Other brain malformations type 6; complex cortical dysplasia with other brain malformations caused by mutation in TUBB
Definition Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DISV3YBR: Complex cortical dysplasia with other brain malformations 6
Disease Identifiers
MONDO ID
MONDO_0014341
UMLS CUI
C4014283
OMIM ID
615771
MedGen ID
862720

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
TUBB OTBT6W48 Definitive Autosomal dominant [1]
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References

1 Mutations in the -tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.