All terms in HP
| Label | Id | Description |
|---|---|---|
| Subsarcolemmal accumulations of abnormally shaped mitochondria | HP_0003548 | |
| Spontaneous neonatal pneumothorax | HP_0004876 | |
| Spontaneous pneumothorax | HP_0002108 | |
| Premature graying of hair | HP_0002216 | |
| Abnormality of hair pigmentation | HP_0009887 | |
| Prematurely aged appearance | HP_0007495 | |
| Shoulder girdle muscle weakness | HP_0003547 | |
| Limb-girdle muscle weakness | HP_0003325 | |
| White forelock | HP_0002211 | |
| Patchy hypopigmentation of hair | HP_0011365 | |
| Increased serum pyruvate | HP_0003542 | |
| Abnormality of glycolysis | HP_0004366 | |
| Increased level of propylene glycol in blood | HP_0410069 | |
| Abnormal circulating metabolite concentration | HP_0032180 | |
| Neonatal inspiratory stridor | HP_0004875 | |
| Neonatal respiratory distress | HP_0002643 | |
| Inspiratory stridor | HP_0005348 | |
| Urinary glycosaminoglycan excretion | HP_0003541 | |
| Increased level of L-glutamic acid in blood | HP_0410068 | |
| Abnormal circulating glutamate concentration | HP_0500148 |