leukodystrophy, hypomyelinating, 9
Findings
No curated finding names leukodystrophy, hypomyelinating, 9 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 RARS gene.
Definition from the Mondo Disease Ontology (MONDO:0014506), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
35 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
Show the remaining 23
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb hypertoniaHPOHP:0006895
- Frequent (30% to 79% of cases)
- Poor head controlHPOHP:0002421
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.
- RARS1HGNC:9870
- Definitive · G2P · Autosomal recessive · 2020
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 9
- Also called
- HLD9hypomyelinating leukodystrophy 9hypomyelinating leukodystrophy type 9leukodystrophy caused by mutation in RARSleukodystrophy, hypomyelinating, type 9RARS leukodystrophyRARS-related autosomal recessive hypomyelinating leukodystrophy