Case #: Patient C, family of 2. 8 year old female of Indian origin

Disease Assertion: Guanidinoacetate methyltransferase deficiency

Family Info: Parents are nonconsanguineous parents and confirmed to be carriers

CasePresentingHPOs:HP:0001263, HP:0010864, HP:0012434, HP:0001344, HP:0002474, HP:0100543, HP:000207, HP:0002123, HP:0000752, HP:4000064, HP:0040082, HP:0004322, HP:0004325, HP:0025051

CaseHPOFreeText:Walking unsupported while stooping forward, Frequent bursts of laughter, Happy predisposition, Delayed neck holding, Poor balance, Abnormal gait, Low plasma creatinine, GAMT deficiency

CaseNotHPOs: HP:0000365, HP:0000505, HP:0001999, HP:0003808, HP:0001315, HP:0001291, HP:0410263, HP:0002353

CaseNotHPOFreeText: Other cerebellar signs besides truncal ataxia, Normal blood tandem mass spectrometry, Normal urine GC-MS, Normal chromosomal microarray (CMA), Normal Angelman syndrome methylation study