cerebral creatine deficiency syndrome

Term ID

DOID:0050798

Synonyms

Definition

An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (2)

References

• OMIM:PS300352

Ontology

Human Disease   ( DOID:0050798 )