609813.1.3

Country

Lebanon
Back to search Result
Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001040167.2:c.564C>A1

Remarks

Healthy father of the affected proband 609813.1.1.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
609813.1.1LebanonArachnodactyly; Camptodactyly of finger; Abnormally ossified vertebrae; Relatively short spineNo
609813.1.2LebanonFemaleNoHealthy mother of the affected proband 609813.1.1.
Back to search Result
© CAGS 2024. All rights reserved.