| CODE | DISEASE |
|---|---|
| Minus Sign (-) | Negative |
| Plus Sign (+) | Positive |
| HCM | Hypertropic Cardiomyopathy |
| PRA | Progressive Retinal Atrophy |
| PKD | Polycystic Kidney Disease |
| GSD1V | Glycogen Storages Disease Type V1 |
| PK | Pyruvate Kinase Deficency |
| MPS | Mucopolysaccharidosis Type V1 and V11 |
| SMA | Spinal Muscular Atrophy |
| FEHP | Familial Episodic Hypokalaemic Polumyopathy |
| GM2 | Gangliosidosis |
