Cerebral creatine deficiency syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CEREBRAL CREATINE DEFICIENCY SYNDROME
MONDO:0000456PS300352
GAMT Causal — ClinVar
GATM Unknown — ClinVar
SLC6A8 Unknown — ClinVar
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
300352
SLC6A8 Unknown — HPO
CEREBRAL CREATINE DEFICIENCY SYNDROME 2
612736
GAMT Unknown — HPO
CEREBRAL CREATINE DEFICIENCY SYNDROME 3
612718
GATM Unknown — HPO