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Metadata
ID DOID:0111876
Name linear skin defects with multiple congenital anomalies 3
Definition A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3.
https://pubmed.ncbi.nlm.nih.gov/25772934/
Xrefs

OMIM:300952

Synonyms

linear skin defects with cardiomyopathy and other congenital anomalies [EXACT]

LSDMCA3 [EXACT]

Parent Relationships

is_a MLS syndrome

is_a physical disorder

is_a X-linked dominant disease

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