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Warburg Micro syndrome
- 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.
Differential diagnosis
- CAMFAK Syndrome (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).
Discussion