Name: cerebral creatine deficiency syndrome 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0050800 cerebral creatine deficiency syndrome 1 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. SLC6A8 deficiency creatine transporter deficiency CEREBRAL CREATINE DEFICIENCY SYNDROME 1

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.

Synonyms

CEREBRAL CREATINE DEFICIENCY SYNDROME 1
creatine transporter deficiency

Cross References

MIM:300352

Parent Terms

cerebral creatine deficiency syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Models

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