Conditions / Syndrome
Schaaf-Yang syndrome
info · Syndrome
A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Autistic behavior
- Polyphagia
- Feeding difficulties
- Poor suck
- Weak cry
- Hypogonadism
- Neonatal hypotonia
- Abnormality of the philtrum
Also known as: MAGEL2-related PWLS; MAGEL2-related Prader-Willi-like syndrome; PWLS; SHFYNG