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PNPLA6-related disorders. Characteristic clinical features are indicated by +. Clinical features not detected in all patients are indicated by +/−.
| Ataxia | Hypogonadism/ Delay in Sexual Development |
Chorioretinal Dystrophy | Trichomegaly/ Alopecia |
Spastic Paraplegia | Intellectual Disabilities | Dwarfism/ Short Statue |
|
|---|---|---|---|---|---|---|---|
| SPG 39 | +/− | + | |||||
| Boucher–Neuhäuser | + | + | +/- | +/− | +/− mild |
||
| Gordon Holmes | + | + | +/− | +/− mild |
|||
| Oliver–McFarlane | +/− | + | + severe |
+ | +/− | + | + |
| Laurence–Moon | +/− | + | + | +/− | + | + |
