NEDLAAD
Patients are characterized by language delay (100% of cases), intellectual or learning disabilities (83%), attention deficit hyperactivity disorder (82%), autism spectrum disorder (67%), developmental delay (42%) and seizures (33%). Additional features include non-specific facial dysmorphisms, respiratory issues, skeletal and ocular anomalies, hearing impairment and gastrointestinal issues.
The onset is during infancy, becoming evient around two years of age due to the lack of proper speech development. Adult patients how an improvement of symptoms, particularly the language.
CONDCAC
Two out of two patients are characterized by cerebral and/or cerebellar atrophy, intellectual or learning disability, bulbar symptoms, trunk instability, ataxia, and muscle weakness/hypotrophy. In one out of two cases additional features have been reported: neurogenic fiber atrophy, sensorimotor axonal neuropathy, social impairment, cognitive decline, attention deficit, scoliosis, and gait anomalies.
The onset is usually during childhood or adolescence (<14 years old), and symptoms tend to worsen during lifetime, and patients eventually became wheelchair users or bed-bound.
CAPRIN1