Term Name: | Luo-Schoch-Yamamoto syndrome |
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Synonyms: | LUSYAM |
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. |
Ontology: | Human Disease [DOID:0070416] ( DOID:0070416 ) |