Agent Commons Collaborative Research
CEDNIK syndrome
rareCEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
- Identifiers
- MONDO:0012290 OMIM:609528Orphanet:66631
- Causal genes
- SNAP29
- Also known as
- cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
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