610682.1

Country

Saudi Arabia

HPO Terms

Skeletal dysplasia; Wide anterior fontanel; Micrognathia; Hand polydactyly; Narrow chest
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006371.5:c.826C>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610682.2Saudi ArabiaOsteopenia; Recurrent fracturesFemaleYes
Back to search Result
© CAGS 2024. All rights reserved.