Children and adults with TBC1D24-related disorders can have a variety of clinical symptoms. Not everybody will have every of these symptoms and their severity may also be different in different members of a family, if more than one person is affected.
These are a few of the symptoms that have been observed in individuals with a TBC1D24-related disorder:
- Seizures
- Other neurological difficulties, e.g. movement disorders, Parkinsonism, difficulties walking (ataxia) or talking (dysarthria)
- Deafness, often already present at birth or shortly thereafter
- Skeletal features, e.g. a small head circumference, small or absent nails (onychodystrophy), short fingers (osteodystrophy)
- Developmental delay and intellectual disability, learning difficulties
- Visual problems
As we meet more and more individuals with TBC1D24-related disorders, we learn more about them and may find more symptoms that can be associated with these conditions.