Preferred Label : Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy;
NCIt synonyms : NEDESBA;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the TRAPPC4 gene, encoding
trafficking protein particle complex subunit 4. It is characterized by severely impaired
global development, seizures during infancy, lack of psychomotor progress, hypotonia,
peripheral spasticity with contractures, cortical visual impairment, and dysmorphia,
including microcephaly.;
Origin ID : C215055;
concept_is_in_subset
- disease_mapped_to_gene
