" /> X-linked creatine transporter deficiency - CISMeF





Preferred Label : X-linked creatine transporter deficiency;

ICD-11 definition : 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.;

ICD-11 synonym : X-linked intellectual deficit - seizures - short stature - midface hypoplasia; X-linked creatine deficiency syndrome;

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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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28/07/2025


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