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Hydrocephalus, or water on the brain, is a developmental disorder in which cerebrospinal fluid (CSF) accumulates in the skull, creating increased pressure on the brain.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.1423C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
Hydrocephalus, or water on the brain, is a developmental disorder in which cerebrospinal fluid (CSF) accumulates in the skull, creating increased pressure on the brain. This may result in the stillbirth of affected young.
In Friesian horses, a variant of the disorder is caused by a recessive mutation to the gene B3GALNT2.
Caractéristiques cliniques
Affected foals develop severely distended, dome-shaped skulls due to increased pressure of CSF around the brain, and are likely to be stillborn. The disorder can also cause dystocia (obstructed/difficult birth) in dams of affected foals.
Additional Information
Références
Pubmed ID: 26452345
Year published: 2015
Omia ID: 487
Omia variant ID: 348