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--- content:warburg_micro_syndrome [2020/02/21 11:21] – bijuhameed
+++ content:warburg_micro_syndrome [2022/04/30 11:55] (current) – [Warburg Micro syndrome] administrator@icnapedia.org
@@ Line 1: / Line 1: @@
 ====== Warburg Micro syndrome ======
-{{template:page>citecheck}}
 [{{ :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 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>long: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]]
-  * [[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 =====
 https://rarediseases.org/rare-diseases/warburg-micro-syndrome/
+==== References ====
+~~REFNOTES~~