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Metadata
ID DOID:0081113
Name Baraitser-Winter syndrome 2
Definition A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
https://pubmed.ncbi.nlm.nih.gov/25052316/
Xrefs

MIM:614583

Parent Relationships

is_a Baraitser-Winter syndrome

is_a autosomal dominant disease

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