neurodevelopmental disorder with seizures, hypotonia, and variable spasticity

Term ID

DOID:0070696

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. https://pmc.ncbi.nlm.nih.gov/articles/PMC12802831/

References

• MIM:621482

Ontology

Human Disease   ( DOID:0070696 )