273750.3.2

Country

Saudi Arabia

HPO Terms

Cutis laxa; Joint laxity; Global developmental delay; Failure to thrive; Proportionate short stature; Abnormal facial shape; Relative macrocephaly
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014780.5:c.1144C>T2NA

Remarks

Relative of 273750.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.3.1Saudi ArabiaCutis laxa; Joint laxity; Global developmental delay; Failure to thrive; Proportionate short stature; Relative macrocephaly; Abnormal facial shapeFemaleYesYes
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