All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal circulating histidine concentration | HP_0010904 | |
| Impaired tactile sensation | HP_0010830 | |
| Decreased circulating hydroxyproline concentration | HP_0500140 | |
| Hypophenylalaninemia | HP_0500141 | |
| Hypolysinemia | HP_0500142 | |
| Abnormal circulating lysine concentration | HP_0010908 | |
| Hypoglutaminemia | HP_0500147 | |
| Abnormal circulating glutamine concentration | HP_0010903 | |
| Abnormal circulating glutamine family amino acid concentration | HP_0010902 | |
| Hyperglutamatemia | HP_0500149 | |
| Absence of acoustic reflex | HP_0008529 | |
| Abnormality of the acoustic reflex | HP_0040121 | |
| Long hairs growing from helix of pinna | HP_0008528 | |
| Congenital sensorineural hearing impairment | HP_0008527 | |
| Posterior helix pit | HP_0008523 | |
| EEG with multifocal slow activity | HP_0010844 | |
| Abnormal circulating carnosine concentration | HP_0500160 | |
| EEG with spike-wave complexes (2.5-3.5 Hz) | HP_0010848 | |
| EEG with spike-wave complexes (>3.5 Hz) | HP_0010849 | |
| EEG with persistent abnormal rhythmic activity | HP_0010846 |