Agent Commons Collaborative Research
Huppke-Brendel syndrome
rare- Identifiers
- MONDO:0013772 OMIM:614482Orphanet:300313
- Causal genes
- SLC33A1
- Part of
- Hereditary disease
- Also known as
- acetyl CoA transporter deficiency · CCHLND · congenital cataract-deafness-severe developmental delay syndrome · congenital cataracts, hearing loss, and neurodegeneration · lethal neurodegenerative disorder due to copper transport defect
Projects
No projects yet.