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244400.1.4
Home
Subject Details
Country
Palestine
HPO Terms
Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152732.4:c.804_806del
2
Ciliary Dyskinesia, Primary, 12
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Remarks
Niece of 244400.1.1
References
Castleman et al. 2009;
Reish et al. 2010
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
244400.1.1
Palestine
Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Infertility
Female
Yes
Yes
Index patient from a Bedouin family
244400.1.2
Palestine
Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility
Male
Yes
Yes
Brother of 244400.1.1
244400.1.3
Palestine
Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility
Male
Yes
Yes
Brother of 244400.1.1
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