Table 2.
The Test Data Set for the Four Diagnostic Models.
| Diagnosis | Case count |
|---|---|
| PHENYLKETONURIA (MIM 261600) | 157 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 27 |
| MAPLE SYRUP URINE DISEASE (MIM 248600) | 21 |
| PROPIONIC ACIDEMIA (MIM 606054) | 16 |
| CANAVAN DISEASE (MIM 271900) | 15 |
| SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 10 |
| ALKAPTONURIA (MIM 203500) | 10 |
| ARGININOSUCCINIC ACIDURIA (MIM 207900) | 9 |
| ISOVALERIC ACIDEMIA (MIM 243500) | 7 |
| CYSTINURIA (MIM 220100) | 5 |
| CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 5 |
| WILSON DISEASE (MIM 277900) | 4 |
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (MIM 253270) | 4 |
| FANCONI-BICKEL SYNDROME (MIM 227810) | 2 |
| ALPHA-METHYLACETOACETIC ACIDURIA (MIM 203750) | 2 |
| TYROSINE TRANSAMINASE DEFICIENCY (MIM 276600) | 2 |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (MIM 601820) | 2 |
| HAWKINSINURIA (MIM 140350) | 2 |
| OSTEOGENESIS IMPERFECTA, TYPE I (MIM 166200) | 1 |
| GLYCOGEN STORAGE DISEASE VI (MIM 232700) | 1 |
| N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (MIM 237310) | 1 |
| REFSUM DISEASE (MIM 266500) | 1 |
| KRABBE DISEASE (MIM 245200) | 1 |
| LEIGH SYNDROME (MIM 256000) | 1 |
| GLYCOGEN STORAGE DISEASE Ib (MIM 232220) | 1 |
| PYRUVATE CARBOXYLASE DEFICIENCY (MIM 266150) | 1 |
| PEARSON MARROW-PANCREAS SYNDROME (MIM 557000) | 1 |