| 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 | |
| Synonyms |
LUSYAM [EXACT] |
| Parent Relationships |