Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Orpha code: 300570OMIM code: 614039

Definition

A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.

Disease data
Classification

Disease

ORPHA code
300570
OMIM code
614039
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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