c11orf73-related autosomal recessive hypomyelinating leukodystrophy
MONDO:0044642Mondo
Findings
No curated finding names c11orf73-related autosomal recessive hypomyelinating leukodystrophy 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.
- HIKESHIHGNC:26938
- Moderate · Illumina · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
2 names
Resolves to: c11orf73-related autosomal recessive hypomyelinating leukodystrophy
- Also called
- C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathyhypomyelinating leukodystrophy due to hikeshi deficiency