271665.2.1

Country

Oman

HPO Terms

Short stature; Microcephaly; Wide anterior fontanel; Alopecia; Limb undergrowth; Madelung deformity; Limited elbow extension; Tibial bowing; Pectus excavatum; Thoracic scoliosis; Coarse facial features; Moderate conductive hearing impairment

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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_006182.4:c.2468_2469del	2		Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

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Remarks

Similarly affected sister

References

Al-Kindi et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
271665.2.2	Oman		Male			Father of 271665.2.1
271665.2.3	Oman		Female			Mother of 271665.2.1