content:warburg_micro_syndrome

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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 severe intellectual disability, microcephaly, hypothalamic hypogonadism 
- * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder +  * associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20 
- * 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.+  * part of a spectrum of disease that includes [[Martsolf syndrome]] at the mild end. [[Martsolf syndrome]] is linked to mutations in [[https://ghr.nlm.nih.gov/gene/RAB3GAP2|RAB3GAP2]]. 
 + 
 +===== Differential diagnosis =====
  
-Differential diagnosis 
   * [[content:martsolf_syndrome|Martsolf syndrome]]   * [[content:martsolf_syndrome|Martsolf syndrome]]
-  * [[Cerebro-oculo-facial-skeletal (COFS) syndrome]] +  * [[https://omim.org/entry/214150|Cerebro-oculo-facial-skeletal (COFS) syndrome]] 
-  * [[congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]] +  * [[https://omim.org/entry/604168|congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]] 
-  * [[CAMFAK Syndrome]]+  * [[https://omim.org/entry/212540|CAMFAK Syndrome]] (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).
  
 ===== Further reading ===== ===== Further reading =====
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 ==== References ==== ==== References ====
-~#REFNOTES~~+~~REFNOTES~~
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