early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
MONDO:0700288Mondo
Findings
No curated finding names early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy 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
- Childhood onset
HPO, annotations 2026-09-02
Features
29 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 dentate nucleus morphologyHPOHP:0100321
- 3 of 3 reported patients
- Ankle flexion contractureHPOHP:0006466
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 2 of 2 reported patients
- Cubitus valgusHPOHP:0002967
- 2 of 2 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- 3 of 3 reported patients
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
Show the remaining 17
- Lower limb hyperreflexiaHPOHP:0002395
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 3 of 3 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- PolyneuropathyHPOHP:0001271
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 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.
- KLC4HGNC:21624
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of