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cold-induced sweating syndrome 1
Summary
- Definition
- A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.
- Super Class
- cold-induced sweating syndrome
External Links
- Disease Ontology
- DOID:0080329
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26992 | Ciliary neurotrophic factor receptor subunit alpha |
