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ichthyosis-sclerosing cholangitis neonatal syndrome; ichthyosis with leukocyte vacuoles alopecia & sclerosing cholangitis (ILVASC)
Epidemiology:
- rare
Genetics:
- autosomal recessive
- associated with defects in CLDN1 are the cause of ichthyosis-sclerosing cholangitis neonatal syndrome (NISCH)
Clinical manifestations:
- scalp hypotrichosis
- scarring alopecia
- vulgar type ichthyosis
- sclerosing cholangitis
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 607626
References
OMIM :accession 607626