neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Term ID

DOID:0060934

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. (4)

References

• MIM:617862

Ontology

Human Disease   ( DOID:0060934 )