neuropathy, congenital hypomyelinating, 3
MONDO:0020766Mondo
Findings
No curated finding names neuropathy, congenital hypomyelinating, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
14 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 3 reported patients
- AreflexiaHPOHP:0001284
- 1 of 3 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 3 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 3 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 3 reported patients
- Facial diplegiaHPOHP:0001349
- 1 of 3 reported patients
- Hypomimic faceHPOHP:0000338
- 1 of 3 reported patients
- Narrow palateHPOHP:0000189
- 1 of 3 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 3 reported patients
- PtosisHPOHP:0000508
- 1 of 3 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 3 reported patients
- Respiratory failureHPOHP:0002878
- 1 of 3 reported patients
Show the remaining 2
- RetrognathiaHPOHP:0000278
- 1 of 3 reported patients
- Thick vermilion borderHPOHP:0012471
- 1 of 3 reported patients
Where it sits
Other names
2 names
Resolves to: neuropathy, congenital hypomyelinating, 3
- Also called
- CHN3hypomyelinating neuropathy, congenital, 3