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Neuroaxonal Dystrophy (Fetal-onset, FNAD)
Breed: Giant Schnauzers
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Neuroaxonal Dystrophy (Fetal-onset, FNAD)
OMIA
715
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Test Type
Genetic Disease/Disorder
Details
Neuroaxonal Dystrophy (Fetal-onset, FNAD) is a severe, lethal disease. Pups die shortly after birth, primarily from respiratory failure.
Details 2
Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal. (Fyfe et al., 2010)
Published
Fyfe, J.C., Al-Tamimi, R.A., Liu, J., Schaffer, A.A., Agarwala, R., Henthorn, P.S.: A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed reference: 21643798. Doi: 10.1007/s10048-011-0285-6.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619_delGGA
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