moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Findings
No curated finding names moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0010448), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
36 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.
- AzoospermiaHPOHP:0000027
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 7 of 7 reported patients
- Postnatal growth retardationHPOHP:0008897
- 7 of 7 reported patients
- Short statureHPOHP:0004322
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 6 of 7 reported patients
Show the remaining 24
- CataractHPOHP:0000518
- 4 of 7 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Frequent (30% to 79% of cases)
- Congenital ptosisHPOHP:0007970
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- 3 of 7 reported patients
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
Where it sits
Other names
2 names
Resolves to: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Also called
- moyamoya disease 4, X-linked recessiveMoyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism