/creatine transporter deficiency

creatine transporter deficiency

Rare Disease

MONDO:0010305

Also Known As

SLC6A8 deficiencycerebral creatine deficiency syndrome 1cerebral creatine deficiency syndrome 1, X-linked recessivecerebral creatine deficiency syndrome type 1creatine transporter deficiencyCCDS1X-linked creatine deficiencyX-linked creatine deficiency syndromeX-linked creatine transporter deficiencycreatine deficiency syndrome, X-linkedcreatine deficiency, X-linkedcreatine transporter defectintellectual disability, X-linked with seizures, short stature and midface hypoplasiaintellectual disability, X-linked, with creatine Transport deficiencyintellectual disability, X-linked, with creatine transport deficiencyintellectual disability, X-linked, with seizures, short stature, and midface hypoplasiamental retardation, X-linked with seizures, short stature and midface hypoplasiamental retardation, X-linked, with creatine Transport deficiencymental retardation, X-linked, with creatine transport deficiencymental retardation, X-linked, with seizures, short stature, and midface hypoplasia

Definition

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.