| Phenotype details |
suspected HMSN II , progressive sensory disturbances and weakness in legs,bilateral dorsal flexor disturbance since 3 years; currently prickling in fingertips and dysfunctional fine motor skills; MGZ#71993: suspected CMS, global developmental delay, muskular hypotonia, intermittend ptosis and dysfunktion of ocular movement, status post febrile convulsion |