614707.2.4 - CAGS

614707.2.4

Country

Lebanon

HPO Terms

Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024531.4:c.916G>A	2		Brown-Vialetto-Van Laere Syndrome 2
NM_024531.4:c.419C>T	2		Brown-Vialetto-Van Laere Syndrome 2

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Remarks

First cousin of 614707.2.1

References

Srour et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614707.2.1	Lebanon	Gait ataxia; Hypotonia; Areflexia; sensorineural hearing impairment; Sensory axonal neuropathy ;	Female	Yes	Yes
614707.2.2	Lebanon	Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ;	Male	Yes	Yes	Bother of 614707.2.1
614707.2.3	Lebanon	Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ;	Female	Yes	Yes	First cousin of 614707.2.1
614707.2.5	Lebanon	Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy	Male	Yes	Yes	First cousin of 614707.2.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.