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X-linked creatine transporter deficiency

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Name:
X-linked creatine transporter deficiency
Description:
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.
ORPHAcode:
52503
Synonyms:
Creatine transporter deficiency
SLC6A8 deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SLC6A8
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14