- Oct 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
PMID: 11326334
Gene: SLC6A8
Disease: creatine transporter deficiency
Inheritance: X-linked
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Inborn errors of creatine metabolism and epilepsy
PMID: 23157605
Gene: SLC6A8
Disease: Creatine transporter deficiency
Inheritance: X-linked
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Title annotation
PMID: 21308988
Gene: SLC6A8
Disease: Creatine transporter deficiency
Inheritance: X-linked
Case annotation
Case#: N/A
DiseaseAssertion: AGAT Deficiency
FamilyInfo: N/A
CasePresentingHPOs: HP:0000729, HP:0001249, HP:0002373, HP:0001252
CaseHPOFreeText: mental retardation, autistic behavior, febrile seizures, hypotonia
CaseNotHPOs: N/A
CaseNotHPOFreeText: Developmental Delays, slow somatic growth
Biochemical analyte testing: Plasma Creatine: low/normal and Urine Creatine: low/normal
Brain Magnetic Resonance Spectroscopy (MRS): N/A
Creatine uptake assay:
Variant:
ClinVarID:
CAID:
gnomAD:
Zygosity:
MaternalGenotype:
AdditionalParentalTesting:
AlsoPublished:
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