Biemond syndrome
Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability.
Biemond syndrome | |
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Other names | Brachydactyly–nystagmus–cerebellar ataxia syndrome |
Signs and symptoms
The family described by Biemond had a few members across four generations who had brachydactyly (due to one short metacarpal and metatarsal), nystagmus, strabismus, cerebellar ataxia and intellectual disability. Some of the members did not have the full syndrome.[1]
Diagnosis
Treatment
History
It was first described in 1934 by Dutch neurologist Arie Biemond (1902–1973). It has not been described since.[1][2]
gollark: I'd quite like Ender Storage and TIS-3D, and I don't think they would break anything too much.
gollark: As in, automation-usable enderchests, for which mods are available.
gollark: Other than introspection modules since nobody wants to stay logged in constantly to use their inventory as a conveyor belt.
gollark: Long-distance item transfer would allow people to do more automation stuff.
gollark: https://minecraft.curseforge.com/projects/tis-3dLook, computer mod!
References
- "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". omim.org. Retrieved 2019-12-23.
- Beighton, Greta (2012-12-06). The Person Behind the Syndrome. Springer Science & Business Media. p. 83. ISBN 978-1-4471-0925-9.
External links
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External resources |
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