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Hydrocephalus is a developmental disorder that results in stillbirth of foals and dystocia in dams by Friesian Horses.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Hydrocephalus is a developmental disorder that results in stillbirth of foals and dystocia in dams by Friesian Horses. The disorder has an autosomal recessive mode of inheritance. The disease is caused by a mutation in the β-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) region. Inadequate passage of cerebrospinal fluid (CSF) causes an active distension of the ventricular system of the brain.
Clinical features
Clinical features include muscular dystrophy and an abnormal narrowing (stenosis) of the jugular foramen.
Additional information
References
Pubmed ID: 26452345
Omia ID: 487
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