X-linked creatine transporter deficiency (Orphanet_52503, an Orphanet rare-disease nomenclature id) 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: CRTR-D, X-linked intellectual disability - seizures - short stature - midface hypoplasia.