/linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 2
Rare Disease
MONDO:0010474
Also Known As
COX7B microphthalmia with linear skin defects syndromelinear skin defects with multiple congenital anomalies 2linear skin defects with multiple congenital anomalies 2, X-linked dominantlinear skin defects with multiple congenital anomalies type 2microphthalmia with linear skin defects syndrome caused by mutation in COX7BLSDMCA2aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies
Definition
Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
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