615222.1.G

Country

Saudi Arabia

HPO Terms

Short stature; Pectus carinatum; Hyperlordosis; Short neck; Limited elbow extension
Back to search Result
Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_031296.3:c.136A>C8NA

Remarks

Four related patients
© CAGS 2024. All rights reserved.