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X-linked creatine transporter deficiency

Orpha number ORPHA52503
Synonym(s) CRTR-D
X-linked intellectual disability - seizures - short stature - midface hypoplasia
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Childhood
  • E72.8
MeSH -
MedDRA -


X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date.

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Detailed information

Clinical genetics review
  • EN (2011)
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