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P519

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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Specifications

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

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.

Clinical features

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

References

Pubmed ID: 26452345

Omia ID: 487

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3. Results

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