Isolated bilateral hemispheric cerebellar hypoplasia

Orpha code: 269221OMIM code:

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.

Disease data
Classification

Morphological anomaly

ORPHA code
269221
OMIM code
-
ICD10 code
Q04.3
ICD11 code
LA06.1

No additional description.

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