All terms in HP
| Label | Id | Description |
|---|---|---|
| Respiratory distress | HP_0002098 | |
| Increased level of D-threitol in CSF | HP_0410058 | |
| Congenital laryngeal stridor | HP_0004886 | |
| Absent axillary hair | HP_0002221 | |
| Absent hair | HP_0002298 | |
| Muscle stiffness | HP_0003552 | |
| Increased level of D-threitol in plasma | HP_0410057 | |
| Woolly hair | HP_0002224 | |
| Muscle fiber splitting | HP_0003555 | |
| Absent eyebrow | HP_0002223 | |
| Aplasia/Hypoplasia of the eyebrow | HP_0100840 | |
| Type 2 muscle fiber atrophy | HP_0003554 | |
| Muscle fiber atrophy | HP_0100295 | |
| Increased level of D-threitol in urine | HP_0410059 | |
| Episodic hypoventilation | HP_0004881 | |
| Hypoventilation | HP_0002791 | |
| Decreased circulating GABA concentration | HP_0410054 | |
| Abnormal circulating GABA concentration | HP_0034025 | |
| Elevated circulating gamma-aminobutyric acid concentration | HP_0410053 | |
| Melanin pigment aggregation in hair shafts | HP_0002220 |