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Metadata
ID DOID:0050800
Name creatine transporter deficiency
Definition A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/17603797, https://www.omim.org/entry/300352
Xrefs

OMIM:300352

Synonyms

CEREBRAL CREATINE DEFICIENCY SYNDROME 1 [EXACT]

SLC6A8 deficiency [EXACT]

Parent Relationships

is_a cerebral creatine deficiency syndrome

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