Variant: rs398122394 

    present in Gene: ALG13
    present in Chromosome: X
    Position on Chromosome: 111685040
    Alleles of this Variant: A/G

rs398122394 in ALG13 gene and Brain atrophy PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and Chorea PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25732998 2015 Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

PMID 24781210 2014 The genetic landscape of infantile spasms.

rs398122394 in ALG13 gene and Global developmental delay PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and Hypophosphatemia PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and Impaired pain sensation PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and Infantile muscular hypotonia PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs398122394 in ALG13 gene and Seizures PMID 23934111 2013 De novo mutations in epileptic encephalopathies.