| PatientID | Diagnosis | AgeOfDiagnosis | TrivialName | SystematicName | TrivialName2 | SystematicName2 |
| 1000 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 20 Day(s) | | | | |
| 944 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2.25 Year(s) | R41Q | c.122G>A | R41Q | c.122G>A |
| 943 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 16.99 Month(s) | H233R | c.698A>G | | c.27delG |
| 942 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2 Day(s) | H233R | c.698A>G | H233R | c.698A>G |
| 682 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 0 Day(s) | | | | |
| 681 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 0 Day(s) | | | | |
| 680 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 5 Day(s) | | | | |
| 679 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 12.75 Month(s) | | | | |
| 282 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 36.34 Year(s) | | | | |
| 260 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 5 Day(s) | | | | |
| 259 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 7.1 Month(s) | | | | |
| 258 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 18 Month(s) | | | | |
| 257 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 6 Day(s) | | | | |
| 256 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2 Day(s) | R165W | | R165W | |
| 255 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2.33 Year(s) | R165W | | R165W | |
