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X-linked creatine deficiency syndrome
Pathology: creatine deficiency
Genetics:
- X-linked
- associated with defects in SLC6A8
Clinical manifestations:
- developmental delay
- hypotonia
- mental retardation
- seizures
- short stature
- midface hypoplasia
Related
creatine
General
genetic syndrome (multisystem disorder)
X-linked disease
Database Correlations
OMIM 300352
References
OMIM :accession 300352