linear skin defects with multiple congenital anomalies 3

Term ID

DOID:0111876

Synonyms

• linear skin defects with cardiomyopathy and other congenital anomalies
• LSDMCA3

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 the NDUFB11 gene on chromosome Xp11.3. https://pubmed.ncbi.nlm.nih.gov/25772934/

References

• OMIM:300952

Ontology

Human Disease   ( DOID:0111876 )