All terms in HP
| Label | Id | Description |
|---|---|---|
| Axial hypotonia | HP_0008936 | |
| Infantile muscular hypotonia | HP_0008947 | |
| Progressive distal muscle weakness | HP_0009063 | |
| Generalized lipodystrophy | HP_0009064 | |
| Generalized limb muscle atrophy | HP_0009055 | |
| Cochlear aplasia | HP_0011375 | |
| Short 4th metacarpal | HP_0010044 | |
| Aplasia/Hypoplasia of the 4th metacarpal | HP_0010042 | |
| Loss of subcutaneous adipose tissue from upper limbs | HP_0009056 | |
| Aplasia/Hypoplasia of the 5th metacarpal | HP_0010045 | |
| Cochlear malformation | HP_0008554 | |
| Incomplete partition of the cochlea type I | HP_0011374 | |
| Aplasia of the 4th metacarpal | HP_0010043 | |
| Congenital generalized lipodystrophy | HP_0009059 | |
| Dilated vestibule of the inner ear | HP_0011379 | |
| Aplasia of the vestibule | HP_0011377 | |
| Aplasia of the 5th metacarpal | HP_0010046 | |
| Hypoplasia of the vestibule of the inner ear | HP_0011378 | |
| Short 5th metacarpal | HP_0010047 | |
| Recurrent viral skin infections | HP_0011371 |