linear skin defects with multiple congenital anomalies 2

Term ID

DOID:0111877

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. (2)

References

• OMIM:300887

Ontology

Human Disease   ( DOID:0111877 )