616726.1.1

Country

United Arab Emirates

HPO Terms

Ciliary dyskinesia; Decreased lacrimation; Retinopathy; Retinal dystrophy; Corneal scarring; Abnormal light- and dark-adapted electroretinogram; Keratoconjunctivitis sicca; Tinnitus; Gastroesophageal reflux; Blepharitis; Bronchiectasis; Recurrent sinopulmonary infections
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Sex

Female

Family History

No

Subject Variants

Remarks

Proband. Disease attributed to homozygous GAS8 exon 1 deletion. Both ADGRV1 variants are on one allele.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616726.1.2United Arab EmiratesMaleNoHealthy father of the proband. Both ADGRV1 variants are on one allele.
616726.1.3United Arab EmiratesFemaleNoHealthy mother of the proband.
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