Term Name: | linear skin defects with multiple congenital anomalies 2 |
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Synonyms: | aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies, APLCC, LSDMCA2 |
Definition: | 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 the COX7B gene on chromosome Xq21.1. |
Ontology: | Human Disease [DOID:0111877] ( DOID:0111877 ) |