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skos:definition |
JABL: Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, mental retardation, and nail dystrophy. Some features of the phenotype of this syndrome overlap those of Aicardi and Goltz syndromes.
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