Schaaf-Yang Syndrome

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.;

Details

Origin ID

C215157;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MAGEL2 Gene [NCIt concept]

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