KLHL7-related disorder

Definition

A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions.

Disease data

Classification

Clinical group

ORPHA code

603699

OMIM code

ICD10 code

ICD11 code

*Soruce