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Cold-induced sweating syndrome 1
rareCrisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
- Identifiers
- MONDO:0010091 OMIM:272430OMIM:601378Orphanet:1545
- Causal genes
- CRLF1
- Part of
- Cold-induced sweating syndrome
- Also known as
- CISS1 · cold-induced sweating syndrome type 1 · Crisponi syndrome
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