612674.5.2

Algeria

Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs

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Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001042472.3:c.846_852dup	2		Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Relative of 612674.5.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612674.5.1	Algeria	Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia	Female	Yes

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