GenTIGSA Gene Database on Rare Genetic Disorders
Creatine Transporter Deficiency  
Disease Aliases (12)

Ccds1

Cerebral creatine deficiency syndrome 1

Cerebral creatine deficiency syndrome 1, x-linked recessive

Cerebral creatine deficiency syndrome type 1

Creatine transporter defect

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

Slc6a8-related creatine transporter deficiency

X-linked creatine deficiency

X-linked creatine deficiency syndrome

Associated Genes (0)
 

Cross-references of Creatine transporter deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations