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
- OMIM:300352 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C1845862 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.8 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503
hasDbXref
- ICD-10:E72.8
- OMIM:300352
- UMLS:C1845862
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409946
- http://www.orpha.net/ORDO/Orphanet_409945
has cases/families value
- 150.0
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409932
- http://www.orpha.net/ORDO/Orphanet_409941
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:52503
part of
- http://www.orpha.net/ORDO/Orphanet_79172
- http://www.orpha.net/ORDO/Orphanet_102283
- http://www.orpha.net/ORDO/Orphanet_611327
- http://www.orpha.net/ORDO/Orphanet_68385
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: