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skos:definition |
JABL: A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies.,MSH: A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.,NCI: A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.
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