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content:warburg_micro_syndrome [2020/02/22 11:55] – bijuhameed | content:warburg_micro_syndrome [2020/02/22 11:56] – bijuhameed | ||
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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. |
- | * severe intellectual disability, microcephaly, | + | * characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay. |
- | * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder | + | * severe intellectual disability, microcephaly, |
- | * in 1993 Warburg used the term MICRO syndrome[(: | + | * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder |
- | * the disorder is part of a spectrum of disease that includes Martsolf syndrome at the mild end, and linked to mutations in RAB3GAP2. | + | * in 1993 Warburg used the term MICRO syndrome[(: |
+ | * 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 |