Isolated corpus callosum agenesis

Orpha code: 200OMIM code:

Definition

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
Classification

Morphological anomaly

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

No additional description.

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