You are using an outdated browser. Please upgrade your browser to improve your experience.

linear skin defects with multiple congenital anomalies 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
Uniprot Description A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.
Mondo Term and Equivalent IDs
MONDO:0010494:  linear skin defects with multiple congenital anomalies 3
UMLS:C4225421: