Preferred Label : creatine deficiency, X-linked;
MeSH note : Mental retardation , X-linked with seizures, short stature and midface hypoplasia;
CISMeF synonym : mental retardation , X-linked, with creatine transport deficiency;
MeSH synonym : X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency; mental retardation, X-linked, with creatine transport deficiency; creatine deficiency syndrome, X-Linked; mental retardation, X-Linked, with seizures, short stature, and midface hypoplasia; creatine transporter defect; creatine transporter deficiency; Slc6a8 deficiency; Slc6a8-Related creatine transporter deficiency; X-Linked creatine deficiency; CCDS1; Cerebral creatine deficiency syndrome 1;
Origin ID : C535598;
UMLS CUI : C1845862;
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=52503
France
French
popular works
rare diseases
membrane transport proteins
X-Linked Intellectual Disability
Persons with Disabilities
creatine transporter
creatine deficiency, X-linked
creatine
brain diseases, metabolic, inborn
plasma membrane neurotransmitter transport proteins
scientific and technical information
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