Niemann-Pick disease type C, late infantile neurologic onset
MONDO:0016308Mondo
Findings
No curated finding names Niemann-Pick disease type C, late infantile neurologic onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
2 genes
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.
Where it sits
- A kind of