270450.2.2

Country

Lebanon

HPO Terms

Intrauterine growth retardation; Postnatal growth retardation; Decreased body weight; Short stature; Abnormality of the face; Mild global developmental delay; Increased serum insulin-like growth factor 1; Strabismus; Clinodactyly; Cafe-au-lait spot; Trichilemmal cyst; Non-Hodgkin lymphoma; Death in childhood

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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_000875.4:c.361G>A	1		Insulin-like Growth Factor I, Resistance to
NM_000875.4:c.700G>A	1		Insulin-like Growth Factor I, Resistance to

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Remarks

Sister of patient 270450.2.1

References

Fang et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
270450.2.1	Lebanon	Intrauterine growth retardation; Postnatal growth retardation; Decreased body weight; Short stature; Abnormality of the face; Mild global developmental delay; Increased serum insulin-like growth factor 1; Elevated circulating growth hormone concentration; Diabetes mellitus; Intellectual disability, mild; Lumbar hyperlordosis; Reduced bone mineral density	Male	Yes	Yes	Proband. Onset of diabetes mellitus may not be associated with the genotype.
270450.2.3	Lebanon		Male	No		Father of patient 270450.2.1
270450.2.4	Lebanon		Female	No		Mother of patient 270450.2.1