X-linked creatine transporter deficiency

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.

Also Known As

  • X-linked intellectual deficit - seizures - short stature - midface hypoplasia
  • X-linked creatine deficiency syndrome
  • Disclaimer   About Us.

    1663 0.7562301158905