JOURNAL ARTICLE

Warburg Micro syndrome

Fatma Dursun, Ayla Güven, Deborah Morris-Rosendahl
Journal of Pediatric Endocrinology & Metabolism: JPEM 2012, 25 (3-4): 379-82
22768674
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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