617662.1.2

Country

Saudi Arabia

HPO Terms

Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; High myopia; Cervical kyphosis; Hypothyroidism; Inguinal hernia; Umbilical hernia

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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_022482.5:c.865G>T	2		Joint Laxity, Short Stature, and Myopia

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Remarks

Brother of 617662.1.1

References

Patel et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617662.1.1	Saudi Arabia	Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; Kyphoscoliosis; Lumbar hyperlordosis; High myopia; Glaucoma; Hearing impairment	Female	Yes	Yes	Patient from 'family 1' in the publication