KLHL7-related Crisponi/cold-induced sweating-like syndrome

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KLHL7-related Crisponi/cold-induced sweating-like syndrome

Synonyms: KLHL7-related Crisponi-like syndrome

A rare genetic multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life dysmorphism feeding and respiratory difficulties contraction of oropharyngeal muscles joint contractures with camptodactyly and early onset retinitis pigmentosa but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes intellectual disability is reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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