leukodystrophy, hypomyelinating, 2
Findings
No curated finding names leukodystrophy, hypomyelinating, 2 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 GJC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012125), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- ChoreoathetosisHPOHP:0001266
- 5 of 5 reported patients
- DysarthriaHPOHP:0001260
- 5 of 5 reported patients
- Facial palsyHPOHP:0010628
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- NystagmusHPOHP:0000639
- 5 of 5 reported patients
- 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.
- GJC2HGNC:17494
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: leukodystrophy, hypomyelinating, 2
- Also called
- GJC2 leukodystrophyHLD2hypomyelinating leukodystrophy 2hypomyelinating leukodystrophy type 2leukodystrophy caused by mutation in GJC2leukodystrophy, hypomyelinating, type 2Pelizaeus-Merzbacher-like disease due to GJC2 mutationPMLD1