Human genes for Schaaf-Yang syndrome
Schaaf-Yang syndrome [DOID:0111715]
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.
Synonyms: Schaaf-Yang syndrome, DOID:0111715, SchaafYang syndrome, Schaaf-Yang disease, Schaaf-Yang disorder ...