content:warburg_micro_syndrome

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content:warburg_micro_syndrome [2020/02/22 12:03] – bijuhameedcontent:warburg_micro_syndrome [2022/04/30 11:32] – changed pubmed syntax administrator@icnapedia.org
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   * characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism   * characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism
   * associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20   * 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>{{pmid>8249951}})] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism
   * 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]].   * 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]].
  
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   * [[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]] (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).+  * [[https://omim.org/entry/212540|CAMFAK Syndrome]] (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).
  
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