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neurodevelopmental disorder with seizures, hypotonia, and variable spasticity (DOID:0070696)
Alliance: disease page
Synonyms: NEDSHS
Alt IDs: OMIM:621482
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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04/07/2026
MGI 6.24 		The Jackson Laboratory