Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 2
Definition
Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
Also known as COX7B microphthalmia with linear skin defects syndrome, linear skin defects with multiple congenital anomalies 2, linear skin defects with multiple congenital anomalies 2, X-linked dominant, linear skin defects with multiple congenital anomalies type 2, microphthalmia with linear skin defects syndrome caused by mutation in COX7B — per MONDO