Schaaf–Yang syndrome

Also known as: MAGEL2-related syndrome; Prader–Willi-like syndrome

Neurodevelopmental disorder with Prader–Willi-like features from truncating MAGEL2 variants.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: MAGEL2

Etiology & mechanism

Truncating paternal MAGEL2 variants.

Gene(s) involved (1)

MAGEL2

Symptoms & signs (7)

autismcontracturesfeeding difficultyhypogonadismintellectual disabilityneonatal hypotoniaobesity

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.