leukodystrophy, hypomyelinating, 24
MONDO:0859242Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 24 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Typically de novo
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
18 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- LeukodystrophyHPOHP:0002415
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
Show the remaining 6
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Severe short statureHPOHP:0003510
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Tongue fasciculationsHPOHP:0001308
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Widened subarachnoid spaceHPOHP:0012704
- 1 of 1 reported patient
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.
- ATP11AHGNC:13552
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of