hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
MONDO:0018655Mondo
Findings
No curated finding names hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 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.
- POLR3AHGNC:30074
- Supportive · Orphanet · Autosomal recessive · 2021