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linear skin defects with multiple congenital anomalies 2 (DOID:0111877)
Alliance: disease page
Synonyms: aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies; APLCC; LSDMCA2
Alt IDs: OMIM:300887
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 COX7B on chromosome Xq21.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory