231050.1.1

Country

United Arab Emirates; Yemen

HPO Terms

Short stature; Tip-toe gait; Upslanted palpebral fissure; Capillary hemangioma; Short nose; Long philtrum; Smooth philtrum; Thin upper lip vermilion; Small hand; Short foot; Short finger; Short toe; Limited elbow movement; Limitation of movement at ankles

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014694.3:c.938T>C	2		Geleophysic Dysplasia 1

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Remarks

The patient belongs to an Emirati family of Yemeni origin

References

Ben-Salem et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
231050.1.2	United Arab Emirates; Yemen		Male			Father of 231050.1.1
231050.1.3	United Arab Emirates; Yemen		Female			Mother of 231050.1.1