leukodystrophy, hypomyelinating, 25
MONDO:0859378Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 25 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
17 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.
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 6 of 6 reported patients
- Mild global developmental delayHPOHP:0011342
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- SeizureHPOHP:0001250
- 3 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 6 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 4 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 4 reported patients
- Diminished ability to concentrateHPOHP:0031987
- 1 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 4 reported patients
Show the remaining 5
- DystoniaHPOHP:0001332
- 1 of 4 reported patients
- Growth delayHPOHP:0001510
- 1 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 4 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 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.
- TMEM163HGNC:25380
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2026
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of