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604213.1.1
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Subject Details
Country
Palestine
HPO Terms
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Associated Disease
NM_013296.4:c.379C>T
2
Chudley-McCullough Syndrome
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Remarks
Parents and 2 unaffected siblings were heterozygous
References
Shahin et al. 2010;
Walsh et al. 2010
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
604213.1.2
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Male
Yes
Yes
Sibling of 604213.1.1
604213.1.3
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Male
Yes
Yes
Sibling of 604213.1.1
604213.1.4
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Male
Yes
Yes
First cousin of 604213.1.1. Parents and an unaffected sibling were heterozygous
604213.1.5
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Female
Yes
Yes
First cousin of 604213.1.1
604213.1.6
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Male
Yes
Yes
First cousin of 604213.1.1
604213.1.7
Palestine
Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment
Male
Yes
Yes
First cousin once removed of 604213.1.1; Parents were heterozygous
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العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us