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Metadata
ID DOID:0070416
Name Luo-Schoch-Yamamoto syndrome
Definition A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
https://pubmed.ncbi.nlm.nih.gov/33864376/
Xrefs

MIM:619460

Synonyms

LUSYAM [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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