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118100.1
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Subject Details
Country
Yemen
HPO Terms
Sensorineural hearing impairment; Ataxia; Peripheral neuropathy
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Sex
Male
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001001557.4:c.1304C>T
1
Klippel-Feil Syndrome 1, Autosomal Dominant
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Remarks
Patient from 'family 11' in the publication. Heterozygous variant identified in this patient was inherited from his asymptomatic mother.
References
Ali et al. 2024
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