KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Synonyms: PERCHING syndrome
A rare genetic multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome?
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Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
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