X-linked creatine transporter deficiency

Go to external page http://www.orpha.net/ORDO/Orphanet_52503


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.

Synonyms:

Creatine transporter deficiency

SLC6A8 deficiency

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503
hasDbXref
  • OMIM:300352
  • ICD-10:E72.8
  • UMLS:C1845862
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409941
  • http://www.orpha.net/ORDO/Orphanet_409932
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:52503
part of
  • http://www.orpha.net/ORDO/Orphanet_611327
  • http://www.orpha.net/ORDO/Orphanet_68385
  • http://www.orpha.net/ORDO/Orphanet_79172
  • http://www.orpha.net/ORDO/Orphanet_102283
present in
  • http://www.orpha.net/ORDO/Orphanet_409991