neuropathy, congenital hypomyelinating, 2
MONDO:0020765Mondo
Findings
No curated finding names neuropathy, congenital hypomyelinating, 2 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 · Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 1 of 1 reported patient
- Delayed ability to standHPOHP:0025335
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Facial diplegiaHPOHP:0001349
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
Show the remaining 4
- Persistent head lagHPOHP:0032988
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Sensory ataxiaHPOHP:0010871
- 1 of 1 reported patient
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.
- MPZHGNC:7225
- Definitive · G2P · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: neuropathy, congenital hypomyelinating, 2
- Also called
- CHN2hypomyelinating neuropathy, congenital, 2