| Main clinical features
|
hypotonia and cerebellar atrophy, with or without seizures is characterized by global developmental delay with variably impaired intellectual development, delayed motor skills, and poor or absent speech
global developmental delay and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms, frequent epilepsy, and ophthalmological anomalies
facial dysmorphisms with long face, sparse hair, high anterior hairline, prominent forehead, broad and laterally sparse eyebrows, thin upper lip, antihelix shelf, prominent antitragus, dental crowding |