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DO Term : complex cortical dysplasia with other brain malformations 7 [DOID:0090132] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.

synonyms:
610031,
polymicrogyria due to TUBB2B mutation,
OMIM:610031,
ORDO:300573,
CDCBM7

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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