614205.1.1

Country

Saudi Arabia

HPO Terms

Intrauterine growth retardation; Neonatal respiratory distress; Proportionate short stature; Hyperlordosis; Abnormal facial shape; Abnormal form of the vertebral bodies
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_032040.4:c.803_807delinsT2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614205.1.2Saudi ArabiaIntrauterine growth retardation; Proportionate short stature; Abnormal facial shape; Heart murmur; Mitral regurgitationFemaleYesYesSibling of 614205.1.1
614205.1.3Saudi ArabiaProportionate short stature; Abnormal facial shape; Abnormal form of the vertebral bodiesMaleYesYesSibling of 614205.1.1
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