content:warburg_micro_syndrome

Warburg Micro syndrome

Autosomal recessive inheritance
  • rare autosomal recessive genetic disorder.
  • characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism
  • associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20
  • in 1993 Warburg used the term MICRO syndrome[1] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism
  • part of a spectrum of disease that includes Martsolf syndrome at the mild end. Martsolf syndrome is linked to mutations in RAB3GAP2.

1. a Warburg M et al. Am J Dis Child. 1993 Dec;147(12):1309-12. PMID : 8249951
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