231070.2.1

Country

Saudi Arabia

HPO Terms

Prematurely aged appearance; Macrotia; Excessive skin wrinkling on dorsum of hands and fingers; Abnormal elasticity of skin; Reduced bone mineral density; Bone fracture; Delayed closure of the anterior fontanelle

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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_152281.3:c.231dup	2		Geroderma Osteodysplasticum

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Remarks

Family originates from the Central province of Saudi Arabia

References

Al-Dosari and Alkuraya, 2009

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
231070.2.2	Saudi Arabia	Prematurely aged appearance; Macrotia; Excessive skin wrinkling on dorsum of hands and fingers; Abnormal elasticity of skin; Reduced bone mineral density ; Recurrent fractures	Male	Yes	Yes	Cousin of 231070.2.1