KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
ORPHA:603684· ICD-10 Q87.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal