Isolated corpus callosum agenesis

Orpha code: 200OMIM code:

Definicja

A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.

Disease data
Klasyfikacja

Morphological anomaly

Kod ORPHA
200
Kod OMIM
-
Kod ICD10
Q04.0
Kod ICD11
LA05.3

No additional description.

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