peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
MONDO:0029131Mondo
Findings
No curated finding names peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 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 · Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 9 reported patients
- Loss of ambulationHPOHP:0002505
- 6 of 8 reported patients · Juvenile onset
- Areflexia of lower limbsHPOHP:0002522
- 6 of 9 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 6 reported patients
- Delayed ability to walkHPOHP:0031936
- 5 of 9 reported patients
- Motor delayHPOHP:0001270
- 2 of 4 reported patients
- Pes cavusHPOHP:0001761
- 2 of 4 reported patients
Show the remaining 13
- Split handHPOHP:0001171
- 2 of 4 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 2 of 5 reported patients
- Short statureHPOHP:0004322
- 3 of 9 reported patients
- StrabismusHPOHP:0000486
- 4 of 13 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 4 reported patients
- HyporeflexiaHPOHP:0001265
- 1 of 4 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.
- MCM3APHGNC:6946
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2017
Where it sits
- A kind of