244400.1.1

Country

Palestine

HPO Terms

Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Infertility

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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

Index patient from a Bedouin family

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
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
244400.1.4	Palestine	Exercise intolerance; Productive cough; Recurrent respiratory infections; Rhinorrhea; Rhinitis; Nasal congestion; Sinusitis; Abnormal ciliary motility; Reduced sperm motility	Female	Yes	Yes	Niece of 244400.1.1