leukodystrophy, hypomyelinating, 19, transient infantile
MONDO:0032871Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 19, transient infantile yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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
- 4 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 4 of 4 reported patients
- Pendular nystagmusHPOHP:0012043
- 4 of 4 reported patients · Neonatal onset
- MyopiaHPOHP:0000545
- 3 of 4 reported patients
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- Head titubationHPOHP:0002599
- 2 of 4 reported patients
- Poor head controlHPOHP:0002421
- 2 of 4 reported patients · Infantile onset
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients · Male
- Babinski signHPOHP:0003487
- 1 of 4 reported patients
- DysmetriaHPOHP:0001310
- 1 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 4 reported patients
- Intention tremorHPOHP:0002080
- 1 of 4 reported patients
Show the remaining 3
- Optic atrophyHPOHP:0000648
- 1 of 4 reported patients
- Specific learning disabilityHPOHP:0001328
- 1 of 4 reported patients
- LeukodystrophyHPOHP:0002415
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.
- TMEM63AHGNC:29118
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of