leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
MONDO:0030514Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 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
13 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
- 9 of 9 reported patients
- CNS hypomyelinationHPOHP:0003429
- 9 of 9 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 9 of 9 reported patients · Juvenile onset
- DysarthriaHPOHP:0001260
- 9 of 9 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 8 of 8 reported patients
- HyperreflexiaHPOHP:0001347
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 9 of 9 reported patients · Juvenile onset
- Spastic paraplegiaHPOHP:0001258
- 9 of 9 reported patients
- Thin corpus callosumHPOHP:0033725
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 9 reported patients
- Motor delayHPOHP:0001270
- 5 of 9 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 4 of 9 reported patients
Show the remaining 1
- SeizureHPOHP:0001250
- 1 of 9 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.
- RNF220HGNC:25552
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
- Also called
- HLD23