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Metadata
ID	DOID:0080581
Name	hyperekplexia 4
Definition	A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/29390050
Xrefs	MIM:618011
Parent Relationships	is_a hyperekplexia is_a autosomal recessive disease