Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. Disease data Classification Disease Synonyms Creatine transporter deficiency Niedobór transportera kreatyny SLC6A8 deficiency SLC6A8 deficiency ORPHA code 52503 OMIM code 300352 ICD10 code E72.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl