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Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Breed: Saluki
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
OMIA
2250
Gene Name
ALDH5A1
Mutation
(XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp)
Test Type
Genetic Disease/Disorder
Details
New publication/test
Details 2
Vernau et al. (2020): "Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy." [From OMIA, 2020]
Published
ALDH5A1
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
ALDH5A1
Mutation
(XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp)
FCI Number
269
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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