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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 ]

Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency

This is just here as a test because I lose it

Term information

created by

lschriml

creation date

2013-11-21T12:10:58Z

has obo namespace

disease_ontology

id

DOID:0050800

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