225500.7

Country

Saudi Arabia

HPO Terms

Neonatal death; Potter facies; Sloping forehead; Hypertelorism; Low-set ears
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_147127.5:c.3870_3893dup2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
225500.6Saudi ArabiaMicromelia; Narrow chestMaleYesYes
Back to search Result
© CAGS 2024. All rights reserved.