neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (DOID:0060934)
Alliance: disease page
Synonyms: NEDMEBA
Alt IDs: OMIM:617862
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.