content:warburg_micro_syndrome

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content:warburg_micro_syndrome [2020/02/22 11:55] bijuhameedcontent:warburg_micro_syndrome [2020/02/22 11:56] bijuhameed
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 ====== Warburg Micro syndrome ====== ====== Warburg Micro syndrome ======
 [{{ :content:autorecessive.jpeg?direct&200|Autosomal recessive inheritance}}]  [{{ :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 Differential diagnosis
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