| Disease Aliases (23) | Ccds1 Cerebral creatine deficiency syndrome 1 Creatine deficiency syndrome, x-linked Creatine transporter defect Crtr-d Creatine transporter deficiency Creatine deficiency, x-linked Mental retardation, x-linked, with creatine transport deficiency Mental retardation, x-linked, with seizures, short stature, and midface hypoplasia Mental retardation , x-linked with seizures, short stature and midface hypoplasia Mental retardation , x-linked, with creatine transport deficiency Slc6a8 deficiency Slc6a8-related creatine transporter deficiency X-linked creatine deficiency X-linked creatine deficiency syndrome X-linked creatine transporter deficiency X-linked intellectual disability - seizures - short stature - midface hypoplasia Cerebral creatine deficiency syndrome 1; ccds1 Cerebral creatine deficiency syndrome type 1 Intellectual disability, x-linked with seizures, short stature and midface hypoplasia Intellectual disability, x-linked, with creatine transport deficiency Intellectual disability, x-linked, with seizures, short stature, and midface hypoplasia Mental retardation, x-linked with seizures, short stature and midface hypoplasia |
Associated Genes (1) NCBI-RefSeq: SLC6A8 (Solute carrier family 6 member 8) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Creatine transporter deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |