Variant: rs778127154 

    present in Gene: ALDH5A1
    present in Chromosome: 6
    Position on Chromosome: 24515259
    Alleles of this Variant: T/-

rs778127154 in ALDH5A1 gene and Movement Disorders PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

rs778127154 in ALDH5A1 gene and Muscle hypotonia PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

rs778127154 in ALDH5A1 gene and Overgrowth PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.