Warburg Micro syndrome

J Pediatr Endocrinol Metab. 2012;25(3-4):379-82. doi: 10.1515/jpem-2011-0459.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology*
  • Abnormalities, Multiple / pathology
  • Cataract / congenital*
  • Cataract / etiology
  • Cataract / pathology
  • Child
  • Cornea / abnormalities
  • Cornea / pathology
  • Cryptorchidism / etiology*
  • Cryptorchidism / pathology
  • GTPase-Activating Proteins / genetics*
  • Genital Diseases, Male / etiology*
  • Genital Diseases, Male / pathology
  • Homozygote
  • Humans
  • Hypogonadism / etiology*
  • Hypogonadism / pathology
  • Intellectual Disability / etiology*
  • Intellectual Disability / pathology
  • Male
  • Microcephaly / etiology*
  • Microcephaly / pathology
  • Mutation / genetics*
  • Optic Atrophy / etiology*
  • Optic Atrophy / pathology
  • Penis / abnormalities
  • Penis / pathology
  • Prognosis
  • RNA Splicing / genetics*
  • rab3 GTP-Binding Proteins / genetics*

Substances

  • GTPase-Activating Proteins
  • rab3 GTP-Binding Proteins

Supplementary concepts

  • Penis agenesis
  • Warburg Sjo Fledelius syndrome