273750.4.1

Country

Saudi Arabia

HPO Terms

Joint laxity; Neonatal respiratory distress; Severe short stature; Relative macrocephaly; Abnormal facial shape; Hyperlordosis; Large iliac wing
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014780.5:c.2863-1G>C2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.4.2Saudi ArabiaJoint laxity; Abnormal facial shape; Severe short stature; Relative macrocephaly; HyperlordosisFemaleYesYesSibling of 273750.4.1
273750.4.3Saudi ArabiaAbnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodiesFemaleYesYesCousin of 273750.4.1
273750.4.4Saudi ArabiaAbnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodiesFemaleYesYesSibling of 273750.4.3
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