617662.1.1

Country

Saudi Arabia

HPO Terms

Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; Kyphoscoliosis; Lumbar hyperlordosis; High myopia; Glaucoma; Hearing impairment

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Sex

Female

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

Patient from 'family 1' in the publication

References

Patel et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617662.1.2	Saudi Arabia	Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; High myopia; Cervical kyphosis; Hypothyroidism; Inguinal hernia; Umbilical hernia	Male	Yes	Yes	Brother of 617662.1.1