OBO ID: DOID:0080581
Term Name: hyperekplexia 4 Search Ontology:
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:
Ontology: Human Disease   (DOID:0080581)
OTHER hyperekplexia 4 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None