Term Name: | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
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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 ) |