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Olivopontocerebellar atrophy-deafness syndrome is a rare genetic disorder characterized by olivopontocerebellar atrophy which begins in infancy, sensorineural hearing loss , and speech delay . Additional findings include cerebellar ataxia . Inheritance pattern varies among families.[1] [2] [3] [4]
It has been described in 11 Omani children. The pedigrees of these children couldn't identify a solid mode of inheritance: 8 of the 11 children were suspected to be sporadic cases, while the pedigrees of 3 of the 11 children pointed to autosomal recessive inheritance.[5]
References [ edit ]
^ "Olivopontocerebellar Atrophy: Background, Pathophysiology, Epidemiology" . 2022-03-11.
^ Sensory 5. "Olivopontocerebellar atrophy deafness | Rare Diseases" . RareGuru . Retrieved 2022-07-16 . {{cite web }}: CS1 maint: numeric names: authors list (link )
^ Pratap-Chand, R.; Gururaj, A. K.; Dilip-Kumar, S. (1995-02-01). "A syndrome of olivopontocerebellar atrophy and deafness with onset in infancy" . Acta Neurologica Scandinavica . 91 2 ): 133–136. doi :10.1111/j.1600-0404.1995.tb00419.x ISSN 0001-6314 . PMID 7785423 .
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R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Olivopontocerebellar_atrophy-deafness_syndrome&oldid=1183466834 " C a t e g o r i e s : ● G e n e t i c s y n d r o m e s ● R a r e g e n e t i c s y n d r o m e s ● D e a f n e s s ● G e n e t i c d i s o r d e r s t u b s H i d d e n c a t e g o r i e s : ● C S 1 m a i n t : n u m e r i c n a m e s : a u t h o r s l i s t ● C S 1 e r r o r s : m i s s i n g p e r i o d i c a l ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n m a t c h e s W i k i d a t a ● A l l s t u b a r t i c l e s
● T h i s p a g e w a s l a s t e d i t e d o n 4 N o v e m b e r 2 0 2 3 , a t 1 4 : 1 6 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
