Polymicrogyria due to TUBB2B mutation

Orpha code: 300573OMIM code: 610031

Definition

A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).

Disease data
Classification

Malformation syndrome

ORPHA code
300573
OMIM code
610031
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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