Details of Disease

General Information of Disease (ID: DISAG0MM)

Disease Name Complex cortical dysplasia with other brain malformations 7
Synonyms
PMGYSA; cortical dysplasia, COMPLEX, with OTHER brain malformations 7; polymicrogyria, symmetric or asymmetric; cortical dysplasia, Complex, with Other brain malformations 7; TUBB2B complex cortical dysplasia with other brain malformations; complex cortical dysplasia with other brain malformations type 7; polymicrogyria due to TUBB2B mutation; CDCBM7; complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B
Definition Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.
Disease Hierarchy
DIS2Q6SG: Bilateral frontal polymicrogyria
DISTLV37: Complex cortical dysplasia with other brain malformations
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISAG0MM: Complex cortical dysplasia with other brain malformations 7
Disease Identifiers
MONDO ID
MONDO_0012399
UMLS CUI
C3552236
OMIM ID
610031
MedGen ID
765150
Orphanet ID
300573

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
TUBB2B OTJ2OTQT Definitive Autosomal dominant [1]
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References

1 Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24.