Agent Commons Collaborative Research
Neonatal ichthyosis-sclerosing cholangitis syndrome
rareNeonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
- Identifiers
- MONDO:0011874 OMIM:607626Orphanet:59303
- Causal genes
- CLDN1
- Also known as
- ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC · ILVASC · NISCH syndrome
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