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Metadata
ID DOID:0112232
Name lissencephaly 3
Definition A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
https://pubmed.ncbi.nlm.nih.gov/17218254/, https://pubmed.ncbi.nlm.nih.gov/30744660/
Xrefs

MESH:C566908

OMIM:611603

ORDO:171680

Subsets

DO_rare_slim

Synonyms

LIS3 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a lissencephaly

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