hyperekplexia 4

Term ID

DOID:0080581

Synonyms

Definition

A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/29390050

References

• OMIM:618011

Ontology

Human Disease   ( DOID:0080581 )