Term Name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Synonyms: NEDMEBA
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.
Ontology: Human Disease [DOID:0060934]   ( DOID:0060934 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder