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Updated: Aug 1, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and
M Warburg1, O Sjö, H C Fledelius
1Division of Pediatric Ophthalmology and Handicaps, Gentofte Hospital, University of Copenhagen, Denmark.
Abstract:
Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.
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