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Metadata
ID DOID:0080507
Name Cornelia de Lange syndrome 3
Definition A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
https://www.ncbi.nlm.nih.gov/pubmed/25655089
Xrefs

MIM:610759

Synonyms

CDLS3 [EXACT]

Cornelia De Lange syndrome 3 with or without midline brain defects [EXACT]

Parent Relationships

is_a Cornelia de Lange syndrome

is_a autosomal dominant disease

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