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cold-induced sweating syndrome (CISS)
Genetics:
1) autosomal recessive disorder
2) defects in CRLF1 or CLCF1 subunits of CRLF1/CLCF1 complex result in CISS
Clinical manifestations:
1) profuse sweating induced by cool surroundings (t = 7-18 C)
2) high-arched palate
3) nasal voice
4) depressed nasal bridge
5) inability to fully extend the elbows
6) kyphoscoliosis.
Related
cytokine receptor-like factor 1 (cytokine-like factor 1, CLF-1, ZcytoR5, CRLF1, ZCYTOR5, UNQ288/PRO327)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 272430
References
OMIM :accession 272430