272460.1

Country

United Arab Emirates

HPO Terms

Scoliosis; Sensorineural hearing impairment; Short stature; Decreased body weight; Abnormal facial shape; Carious teeth; Clinodactyly; Limited elbow extension; Delayed skeletal maturation; Hypoplastic radial head; Carpal bone hypoplasia; Short long bone

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Sex

Female

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001457.4:c.4545T>A	2		Spondylocarpotarsal Synostosis Syndrome

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References

Alabdullatif et al. 2017