leukodystrophy, hypomyelinating, 4
Findings
No curated finding names leukodystrophy, hypomyelinating, 4 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 HSPD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012824), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
20 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.
- Babinski signHPOHP:0003487
- 10 of 10 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Head titubationHPOHP:0002599
- 10 of 10 reported patients
- HyperreflexiaHPOHP:0001347
- 10 of 10 reported patients
- HypotoniaHPOHP:0001252
- 10 of 10 reported patients
- LeukodystrophyHPOHP:0002415
Show the remaining 8
- NystagmusHPOHP:0000639
- 9 of 10 reported patients
- Ethylmalonic aciduriaHPOHP:0003219
- 5 of 8 reported patients
- ApneaHPOHP:0002104
- 6 of 10 reported patients
- SeizureHPOHP:0001250
- 6 of 10 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 4 of 10 reported patients
- ChoreoathetosisHPOHP:0001266
- Flexion contractureHPO
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.
- HSPD1HGNC:5261
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
9 names
Resolves to: leukodystrophy, hypomyelinating, 4
- Also called
- HLD4HSPD1 leukodystrophyhypomyelinating leukodystrophy 4hypomyelinating leukodystrophy type 4leukodystrophy caused by mutation in HSPD1leukodystrophy, hypomyelinating, type 4MitCHAP60 diseasemitochondrial HSP60 chaperonopathyPelizaeus-Merzbacher-like disease due to HSPD1 mutation