Schaaf-Yang syndrome
MONDO:0014243Mondo
Findings
No curated finding names Schaaf-Yang syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
84 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Autistic behaviorHPOHP:0000729
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- InfertilityHPOHP:0000789
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
Show the remaining 72
- Poor suckHPOHP:0002033
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Weak cryHPOHP:0001612
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abdominal obesityHPOHP:0012743
- Frequent (30% to 79% of cases)
- Abnormal temper tantrumsHPOHP:0025160
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAGEL2HGNC:6814
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Schaaf-Yang syndrome
- Also called
- arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomaliesarthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomaliesSHFYNG