cold-induced sweating syndrome 1

Term ID

DOID:0080329

Synonyms

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. https://www.ncbi.nlm.nih.gov/books/NBK52917/

References

• OMIM:272430

Ontology

Human Disease   ( DOID:0080329 )