Human genes for linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 2 [DOID:0111877]
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1.
Synonyms: linear skin defects with multiple congenital anomalies 2, DOID:0111877, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies, APLCC, LSDMCA2 ...