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Metadata
ID DOID:0111877
Name 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 COX7B on chromosome Xq21.1.
https://pubmed.ncbi.nlm.nih.gov/23122588/, https://pubmed.ncbi.nlm.nih.gov/9747372/
Xrefs

OMIM:300887

Synonyms

aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies [EXACT]

APLCC [EXACT]

LSDMCA2 [EXACT]

Parent Relationships

is_a MLS syndrome

is_a physical disorder

is_a X-linked dominant disease

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