612674.4.2

Country

Algeria

HPO Terms

Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia; Dysarthria; Dysmetria; Horizontal nystagmus; Cerebellar vermis atrophy; Babinski sign; Tongue fasciculations

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Sex

Female

Family History

Yes

Subject Variants

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

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Remarks

Relative of 612674.4.1

References

Fiskerstrand et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612674.4.1	Algeria	Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Scoliosis; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia; Dysarthria; Dysmetria; Head titubation; Cerebellar vermis atrophy; Macroglossia; Babinski sign	Male	Yes