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skos:definition |
JABL: Mental retardation syndrome with Dandy-Walker anomaly (partial or complete absence of cerebellar vermis, hydrocephalus, and posterior fossa continuous with the fourth ventricle), hypotonia progressing to spasticity and contractures, choreoathetosis, seizures, narrow facies with coarse appearance, neuroaxonal dystrophy, and accumulation of iron in the basal ganglia.
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