200700.1.2

Country

Saudi Arabia

HPO Terms

Mesomelic/rhizomelic limb shortening; Hypoplasia of the radius; Hypoplasia of the ulna; Radial bowing; Ulnar bowing; Short femur; Fibular hypoplasia; Short tibia; Tibial bowing; Fibular bowing; Short humerus

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001319138.2:c.1285T>C	2		Chondrodysplasia, Grebe Type

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Remarks

Brother of 200700.1.1

References

Faiyaz-Ul-Haque et al. 2008

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
200700.1.1	Saudi Arabia	Mesomelic/rhizomelic limb shortening; Hypoplasia of the radius; Hypoplasia of the ulna; Radial bowing; Ulnar bowing; Short femur; Fibular hypoplasia; Short tibia; Tibial bowing; Fibular bowing	Female	Yes	Yes
200700.1.3	Saudi Arabia	Short humerus; Hypoplasia of the radius; Radial bowing; Hypoplasia of the ulna; Abnormality of the calvaria; Hypoplastic facial bones	Female	Yes	Yes	Double first-cousin of 200700.1.1