leukodystrophy, hypomyelinating, 28
MONDO:0975833Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 28 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
11 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
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Cerebral dysmyelinationHPOHP:0007266
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intention tremorHPOHP:0002080
- 1 of 1 reported patient
- Lower limb hypertoniaHPOHP:0006895
- 1 of 1 reported patient
- Motor regressionHPOHP:0033044
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 1 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.
- MALHGNC:6817
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of