Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities

Description

An autosomal recessive condition caused by mutation(s) in the SHMT2 gene, encoding serine hydroxymethyltransferase, mitochondrial. It is characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs. Most affected individuals also have progressive hypertrophic cardiomyopathy in childhood or cardiac developmental anomalies.