231070.4

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 ; Recurrent fractures

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Sex

Female

Family History

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

Patient originates from the Central province of Saudi Arabia

References

Al-Dosari and Alkuraya, 2009