224410.2

Country

Saudi Arabia

HPO Terms

Kyphosis; Cervical spinal canal stenosis; Narrow mouth; Long eyelashes; Brachycephaly
Back to search Result
Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005529.7:c.9970G>A2NA

Remarks

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
224410.1Saudi ArabiaNeonatal respiratory distress; Prominent nose; Short stature; Microcephaly; ScoliosisMaleYes
Back to search Result
© CAGS 2024. All rights reserved.