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193510.2
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Subject Details
Country
Lebanon
HPO Terms
Sensorineural hearing impairment; Abnormal nasal bridge morphology; Synophrys; Thick eyebrow; Abnormal iris pigmentation
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000248.3:c.710+5G>T
1
Waardenburg Syndrome, Type 2A
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References
Haddad et al., 2011
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