Term Name:	neurodevelopmental disorder with seizures, hypotonia, and variable spasticity
Synonyms:	NEDSHS
Definition:	An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42.
Ontology:	Human Disease [DOID:0070696]   ( DOID:0070696 )