01
Diseases
X-Linked Creatine Transporter Deficiency
x-linked creatine transporter deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
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Core Information
- Disease Name
- X-Linked Creatine Transporter Deficiency
- Standard Disease Name
- x-linked creatine transporter deficiency
- MeSH Tree
- No data
- ICD-10
- E72.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535598
- OMIM ID
- 300352
- UMLS ID
- C1845862
- HPO ID
- No data
Description and Extensions
- 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/langua
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