Metadata | |
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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 |