Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
|
28065824 |
2017 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
|
28065824 |
2017 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
|
27081545 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
|
27081545 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
|
24190795 |
2014 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
|
24190795 |
2014 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
|
23644449 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
|
23644449 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
|
20528887 |
2011 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
|
20528887 |
2011 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
|
20846889 |
2010 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
|
24137762 |
2010 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
|
20846889 |
2010 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
|
24137762 |
2010 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
|
16738945 |
2006 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
|
16738945 |
2006 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
|
15234334 |
2004 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
|
15234334 |
2004 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
|
15154114 |
2004 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
|
15154114 |
2004 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Creatine and creatinine metabolism.
|
10893433 |
2000 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Creatine and creatinine metabolism.
|
10893433 |
2000 |
Muscle hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|