3 Matching Annotations
  1. Oct 2022
    1. X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

      PMID: 11326334

      Gene: SLC6A8

      Disease: creatine transporter deficiency

      Inheritance: X-linked

    1. Inborn errors of creatine metabolism and epilepsy

      PMID: 23157605

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

    1. 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: