visceral neuropathy, familial, 2, autosomal recessive
MONDO:0030399Mondo
Findings
No curated finding names visceral neuropathy, familial, 2, autosomal recessive 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
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Chronic constipationHPOHP:0012450
- 2 of 2 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Short-segment aganglionic megacolonHPOHP:0011284
- 2 of 2 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 2 reported patients
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.
- ERBB2HGNC:3430
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: visceral neuropathy, familial, 2, autosomal recessive
- Also called
- VSCN2