Main clinical features
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severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years; affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability
brain imaging shows cerebral and cerebellar atrophy
head circumference percentiles, normal at birth, declined over time, but no other systems were involved |