Endocrinology · Endocrinology / Pediatric endocrinology
Schaaf–Yang syndrome
also: MAGEL2-related syndrome; Prader–Willi-like syndrome
Neurodevelopmental disorder with Prader–Willi-like features from truncating MAGEL2 variants.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonatal
- Gene(s) involved
- MAGEL2
- Alternative names & eponyms
- MAGEL2-related syndrome; Prader–Willi-like syndrome
Etiology & mechanism
Truncating paternal MAGEL2 variants.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Schaaf–Yang syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
4 shared
Prader–Willi syndrome
hypogonadism, intellectual disability, neonatal hypotonia, obesity
3 shared
Börjeson–Forssman–Lehmann syndrome
hypogonadism, intellectual disability, obesity
3 shared
Borjeson–Forssman–Lehmann syndrome
hypogonadism, intellectual disability, obesity
2 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability, obesity
2 shared
Bardet–Biedl syndrome
hypogonadism, obesity
2 shared
Coffin–Siris syndrome
feeding difficulty, intellectual disability
2 shared
Costello syndrome
feeding difficulty, intellectual disability
2 shared
Fragile X syndrome
autism, intellectual disability
2 shared
Potocki–Lupski syndrome
autism, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
Shares genes with
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