leukodystrophy, hypomyelinating, 13
Findings
No curated finding names leukodystrophy, hypomyelinating, 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.
Definition from the Mondo Disease Ontology (MONDO:0014813), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 6 of 6 reported patients
- Delayed brainstem auditory evoked response conduction timeHPOHP:0004466
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 6 of 6 reported patients
- LeukodystrophyHPOHP:0002415
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- HypertoniaHPO
Show the remaining 11
- Visual impairmentHPOHP:0000505
- 3 of 6 reported patients
- Joint contractureHPOHP:0034392
- 2 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 6 reported patients
- Absent speechHPOHP:0001344
- 1 of 6 reported patients
- AtaxiaHPOHP:0001251
- 1 of 6 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 6 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.
- HIKESHIHGNC:26938
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: leukodystrophy, hypomyelinating, 13
- Also called
- HIKESHI leukodystrophyHLD13hypomyelinating leukodystrophy 13hypomyelinating leukodystrophy type 13leukodystrophy caused by mutation in HIKESHIleukodystrophy, hypomyelinating, type 13