270450.1.1

Country

Lebanon

HPO Terms

Perimembranous ventricular septal defect; Delayed skeletal maturation; Acanthosis nigricans; Scoliosis; Truncal obesity; High pitched voice; Triangular face; Abnormality of the palpebral fissures; Esotropia; Highly arched eyebrow; Low-set ears; High palate; Microretrognathia; Webbed neck; Clinodactyly

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000875.5:c.119G>T	2	NA	Insulin-like Growth Factor I, Resistance to

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Remarks

Proband

References

Gannagé-Yared MH et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
270450.1.2	Lebanon		Male	No	Yes	Father of 270450.1.1
270450.1.3	Lebanon		Female	No	Yes	Mother of 270450.1.1