Disease

linear skin defects with multiple congenital anomalies 2

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.

Synonyms

aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
APLCC

Cross References

MIM:300887

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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