612674.2.1

United Arab Emirates

Motor polyneuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract

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Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
14 kb Del NC_000020.11:g.25383511_25397601delinsGG	2		Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612674.2.2	United Arab Emirates	Demyelinating motor neuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract	Male	Yes		Relative of 612674.2.1
612674.2.3	United Arab Emirates	Motor polyneuropathy; Ataxia; Hearing impairment; Cataract	Female	Yes		Relative of 612674.2.1

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