The<unk>  causes cerebellar ataxia (balance and coordination problems), intellectual disability, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. Small stature, mild to severe intellectual disability and dysarthria (slow, imprecise speech) are usually present. Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur. Muscle weakness is progressive, but life expectancy is near normal.
Marinesco–Sjögren syndrome
Sjögren–Larsson syndrome
Auto-brewery syndrome
Anti-IgLON5 disease
Neuro-Behçet's disease
CREST syndrome
TNF receptor associated periodic syndrome
Denys–Drash syndrome