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Luo-Schoch-Yamamoto syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070416
- Mondo Disease Ontology
- OMIM
