Search Ontology:
Human Disease

X-linked congenital hydrocephalus

Term ID
DOID:0070686
Synonyms
  • X-linked hydrocephalus
Definition
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development. (2)
References
Ontology
Human Disease   ( DOID:0070686 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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.