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content:warburg_micro_syndrome [2020/02/22 11:55] – bijuhameed | content:warburg_micro_syndrome [2022/04/30 11:55] (current) – [Warburg Micro syndrome] administrator@icnapedia.org | ||
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====== Warburg Micro syndrome ====== | ====== Warburg Micro syndrome ====== | ||
[{{ : | [{{ : | ||
- | * 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. |
- | | + | * characterized by severe intellectual disability, microcephaly, |
- | * 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[(: | + | * in 1993 Warburg used the term MICRO syndrome[(: |
- | | + | * part of a spectrum of disease that includes |
+ | |||
+ | ===== Differential diagnosis ===== | ||
- | Differential diagnosis | ||
* [[content: | * [[content: | ||
- | * [[Cerebro-oculo-facial-skeletal (COFS) syndrome]] | + | * [[https:// |
- | * [[congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]] | + | * [[https:// |
- | * [[CAMFAK Syndrome]] | + | * [[https:// |
===== Further reading ===== | ===== Further reading ===== | ||
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==== References ==== | ==== References ==== | ||
- | ~#REFNOTES~~ | + | ~~REFNOTES~~ |