Preferred Label : Schaaf-Yang Syndrome;
NCIt synonyms : PWLS; Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies; SHFYNG; Chitayat-Hall Syndrome; Prader-Willi-Like Syndrome;
NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAGEL2 gene, encoding
MAGE-like protein 2. It is characterized by delayed psychomotor development, impaired
intellectual development, hypotonia with contractures, behavioral abnormalities, feeding
difficulties, and variable dysmorphic facial features.;
Origin ID : C215157;
concept_is_in_subset
- disease_has_finding
- disease_mapped_to_gene
