Warburg Micro syndrome

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Autosomal recessive inheritance

* rare autosomal recessive genetic disorder. * characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay. * severe intellectual disability, microcephaly, hypothalamic hypogonadism * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder * in 1993 Warburg used the term MICRO syndrome to describe an autosomal recessive syndrome comprising Microcephaly, Microcornea, congenital Cataract, mental Retardation, Optic atrophy, and hypogenitalism * the disorder is part of a spectrum of disease that includes Martsolf syndrome at the mild end, and linked to mutations in RAB3GAP2.

Differential diagnosis

• Martsolf syndrome
• Cerebro-oculo-facial-skeletal (COFS) syndrome
• congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome
• CAMFAK Syndrome

https://rarediseases.org/rare-diseases/warburg-micro-syndrome/