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Creatine deficiency, X-linked MeSH Supplementary Concept Data 2025


MeSH Supplementary
Creatine deficiency, X-linked
Unique ID
C535598
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535598
Entry Term(s)
CCDS1
Cerebral creatine deficiency syndrome 1
Creatine Deficiency Syndrome, X-Linked
Creatine Transporter Defect
Creatine Transporter Deficiency
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
Registry Numbers
0
Heading Mapped to
Creatine / deficiency
*Brain Diseases, Metabolic, Inborn
*X-Linked Intellectual Disability
Plasma Membrane Neurotransmitter Transport Proteins / deficiency
Frequency
63
Note
An X-linked disorder of creatine (Cr) transport characterized by intellectual disability, severe SPEECH DELAY, behavioral abnormalities, and SEIZURES. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. Mutations in the SLC6A8 gene have been identified. OMIM: 300352
Date of Entry
2010/08/25
Revision Date
2015/08/18
Creatine deficiency, X-linked Preferred
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