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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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|Mode of Inheritance|
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 include muscular dystrophy and an abnormal narrowing (stenosis) of the jugular foramen.
Pubmed ID: 26452345
Omia ID: 487