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--- content:warburg_micro_syndrome [2020/02/22 11:55] – bijuhameed
+++ content:warburg_micro_syndrome [2020/02/22 11:56] – bijuhameed
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 ====== Warburg Micro syndrome ======
 [{{ :content:autorecessive.jpeg?direct&200|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.
+* rare autosomal recessive genetic disorder.
- * severe intellectual disability, microcephaly, hypothalamic hypogonadism
+* characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay.
- * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder
+* severe intellectual disability, microcephaly, hypothalamic hypogonadism
- * in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pubmed>8249951}})] to describe an autosomal recessive syndrome comprising Microcephaly, Microcornea, congenital Cataract, mental Retardation, Optic atrophy, and hypogenitalism
+* mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder
- * the disorder is part of a spectrum of disease that includes Martsolf syndrome at the mild end, and linked to mutations in RAB3GAP2.
+* in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pubmed>8249951}})] 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