leukodystrophy, hypomyelinating, 14
MONDO:0033486Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- UFM1HGNC:20597
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of