Preferred Label : Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities;
NCIt synonyms : NEDCASB;
NCIt definition : 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.;
Origin ID : C215054;
concept_is_in_subset
- disease_mapped_to_gene
