Luo-Schoch-Yamamoto syndrome

Term ID

DOID:0070416

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. https://pubmed.ncbi.nlm.nih.gov/33864376/

References

• OMIM:619460

Ontology

Human Disease   ( DOID:0070416 )