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Metadata
ID DOID:0090137
Name complex cortical dysplasia with other brain malformations 1
Definition A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.
https://www.ncbi.nlm.nih.gov/books/NBK350554/, https://www.ncbi.nlm.nih.gov/pubmed/30016746, https://www.omim.org/entry/614039
Xrefs

ICD10CM:Q04.3

OMIM:614039

ORDO:300570

Synonyms

CDCBM1 [EXACT]

cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [EXACT]

Parent Relationships

is_a complex cortical dysplasia with other brain malformations

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