leukodystrophy, hypomyelinating, 3
Findings
No curated finding names leukodystrophy, hypomyelinating, 3 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 AIMP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009843), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
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.
- Abnormal pyramidal signHPOHP:0007256
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 7 of 7 reported patients
- Appendicular spasticityHPOHP:0034353
- 7 of 7 reported patients
- Axial hypotoniaHPOHP:0008936
- 7 of 7 reported patients
- Coarse facial featuresHPOHP:0000280
- 7 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 8
- KyphoscoliosisHPOHP:0002751
- 6 of 7 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 6 of 7 reported patients
- Slow pupillary light responseHPOHP:0030211
- 3 of 4 reported patients
- ExotropiaHPOHP:0000577
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 5 reported patients
- Corpus callosum atrophyHPOHP:0007371
- EEG abnormalityHPO
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.
- AIMP1HGNC:10648
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 3
- Also called
- AIMP1 leukodystrophyHLD3hypomyelinating leukodystrophy 3hypomyelinating leukodystrophy type 3leukodystrophy caused by mutation in AIMP1leukodystrophy, hypomyelinating, type 3Pelizaeus-Merzbacher-like disease due to AIMP1 mutation