CLDN11

Clinical Characteristics

The clinical features of this disease include:

•    Global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk
•    Dysarthria
•    Limb spasticity with pyramidal signs
•    Nystagmus
•    Hypermetropia
•    Astigmatism
•    Brain imaging shows hypomyelination and a delay in myelination