Catalog

X-linked creatine transporter deficiency

No MMS code

Link to WHO Definition

X-linked creatine transporter deficiency – http://id.who.int/icd/entity/1208619155

X-linked creatine transporter deficiency is a very rare creatine transport disorder characterised 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.