Linear skin defects with multiple congenital anomalies 3
Linear skin defects with multiple congenital anomalies 3
Definition
Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
Also known as linear skin defects with multiple congenital anomalies 3, linear skin defects with multiple congenital anomalies 3, X-linked dominant, linear skin defects with multiple congenital anomalies type 3, microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11, NDUFB11 microphthalmia with linear skin defects syndrome — per MONDO