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Isolated bilateral hemispheric cerebellar hypoplasia

ORPHA:269221· ICD-10 Q04.3

Definition

Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.

Prevalence
Unknown
Age of onset
Infancy, Neonatal