linear skin defects with multiple congenital anomalies 3

info · Syndrome

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.

Signs and symptoms

Asymmetric, linear skin defects
Strabismus
Cardiac arrest
Seizure
Agenesis of corpus callosum
Delayed eruption of primary teeth
Hypotonia
Histiocytoid cardiomyopathy
Thyroid C cell hyperplasia
Failure to thrive

Also known as: LSDMCA3; linear skin defects with cardiomyopathy and other congenital anomalies