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	Allele Frequency	Associated Disease	Associated Gene
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	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.9.2	Saudi Arabia		Male			Father of 216550.9.1
216550.9.3	Saudi Arabia		Female			Mother of 216550.9.1