Warburg Micro syndrome

Fatma Dursun, Ayla Güven, Deborah Morris-Rosendahl
Journal of Pediatric Endocrinology & Metabolism: JPEM 2012, 25 (3-4): 379-82
Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state.

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