216550.9.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Global developmental delay; Hypotonia; Attention deficit hyperactivity disorder; Joint hypermobility; Unsteady gait; Carious teeth

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Sex

Female

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_152564.5:c.1219C>T	2	Cohen Syndrome

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Remarks

Proband from 'family 034' in the publication

References

Charng et al. 2016

Related Subjects

Subject Id	Country	Sex	Remarks
216550.9.2	Saudi Arabia	Male	Father of 216550.9.1
216550.9.3	Saudi Arabia	Female	Mother of 216550.9.1