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 )
Relationships
is a type of:
OTHER hyperekplexia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATAD1 Hyperekplexia 4 618011
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.