Polymicrogyria due to TUBB2B mutation

Orpha code: 300573OMIM code: 610031

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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