title: Warburg Micro syndrome.
abstract: 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.
authors: Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. fatmadursun54@yahoo.com
authors: Fatma
authors: F
authors: Dursun
authors: Ayla
authors: A
authors: Güven
authors: Deborah
authors: D
authors: Morris-Rosendahl
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D002386:Cataract / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D002648:Child; D003315:Cornea / Q000002:abnormalities / Q000473:pathology; D003456:Cryptorchidism / Q000209:etiology* / Q000473:pathology; D020690:GTPase-Activating Proteins / Q000235:genetics*; D005832:Genital Diseases, Male / Q000209:etiology* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000209:etiology* / Q000473:pathology; D008607:Intellectual Disability / Q000209:etiology* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000209:etiology* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009896:Optic Atrophy / Q000209:etiology* / Q000473:pathology; D010413:Penis / Q000002:abnormalities / Q000473:pathology; D011379:Prognosis; D012326:RNA Splicing / Q000235:genetics*; D020692:rab3 GTP-Binding Proteins / Q000235:genetics*
chemical_list: D020690:GTPase-Activating Proteins; D020692:rab3 GTP-Binding Proteins