All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal cadiomyocyte dystrophin staining | HP_0031339 | |
| Cervical agenesis | HP_0030008 | |
| Cervical insufficiency | HP_0030009 | |
| Myoclonic status epilepticus with coma | HP_0032669 | |
| Myoclonic status epilepticus | HP_0032667 | |
| Abnormal cardiomyocyte connexin43 staining | HP_0031337 | |
| Single fiber EMG abnormality | HP_0030006 | |
| Abnormal cardiomyocyte plakoglobin staining | HP_0031338 | |
| EMG: positive sharp waves | HP_0030007 | |
| EMG: axonal abnormality | HP_0003482 | |
| Bronchial hemorrhage | HP_0033999 | |
| Myoclonic status epilepticus without coma | HP_0032668 | |
| Single-lobed right lung | HP_0033998 | |
| Status epilepticus with prominent motor symptoms | HP_0032658 | |
| Cicatricial lagophthalmos | HP_0030004 | |
| Lagopthalmos | HP_0030001 | |
| Abnormal cardiomyocyte mitochondrial morphology | HP_0031335 | |
| Proximal tibial hypoplasia | HP_0006379 | |
| Short tibia | HP_0005736 | |
| Synostosis of carpal bones | HP_0005048 |