Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
|
23350806 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
|
23350806 |
2013 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
|
23350806 |
2013 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
|
20554659 |
2010 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
|
20554659 |
2010 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
|
20554659 |
2010 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
|
18762976 |
2009 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
|
19142996 |
2009 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
|
18762976 |
2009 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
|
18762976 |
2009 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
|
19142996 |
2009 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
|
19142996 |
2009 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
|
17068770 |
2007 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
|
17088338 |
2007 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
|
17088338 |
2007 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
|
17068770 |
2007 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
|
17068770 |
2007 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
|
17088338 |
2007 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epidemiology of pyridoxine dependent seizures in the Netherlands.
|
16159904 |
2005 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epidemiology of pyridoxine dependent seizures in the Netherlands.
|
16159904 |
2005 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epidemiology of pyridoxine dependent seizures in the Netherlands.
|
16159904 |
2005 |
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.
|
8913181 |
1996 |