Term Name: linear skin defects with multiple congenital anomalies 2
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 )

Relationships
is a type of: MLS syndrome physical disorder X-linked dominant disease