content:warburg_micro_syndrome

Differences

This shows you the differences between two versions of the page.

Link to this comparison view

Both sides previous revision Previous revision
Next revisionBoth sides next revision
content:warburg_micro_syndrome [2020/02/22 11:56] bijuhameedcontent:warburg_micro_syndrome [2020/02/22 11:56] bijuhameed
Line 2: Line 2:
 [{{ :content:autorecessive.jpeg?direct&200|Autosomal recessive inheritance}}]  [{{ :content:autorecessive.jpeg?direct&200|Autosomal recessive inheritance}}] 
    
-* rare autosomal recessive genetic disorder. +  * rare autosomal recessive genetic disorder. 
-* characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay.  +  * 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 +  * severe intellectual disability, microcephaly, hypothalamic hypogonadism 
-* mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder +  * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder 
-* 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 +  * 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.+  * 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
  • content/warburg_micro_syndrome.txt
  • Last modified: 2022/04/30 11:55
  • by administrator@icnapedia.org