Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
MONDO:0016819Mondo
Findings
No curated finding names Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.
Definition from the Mondo Disease Ontology (MONDO:0016819), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormality of jaw musclesHPOHP:0045037
- Very frequent (80% to 99% of cases)
- Bilateral talipes equinovarusHPOHP:0001776
- Very frequent (80% to 99% of cases)
- Decreased corneal reflexHPOHP:0008000
- Very frequent (80% to 99% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- Very frequent (80% to 99% of cases)
- External ophthalmoplegiaHPOHP:0000544
- Very frequent (80% to 99% of cases)
- Facial paralysisHPOHP:0007209
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Inability to walkHPOHP:0002540
- Very frequent (80% to 99% of cases)
- Mask-like faciesHPOHP:0000298
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Movement abnormality of the tongueHPOHP:0000182
- Very frequent (80% to 99% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- Also called
- Moebius axonal neuropathy hypogonadism