615502.2

Country

United Arab Emirates

HPO Terms

Intrauterine growth retardation; Failure to thrive; Global developmental delay; Abnormal facial shape; Finger syndactyly; Clinodactyly; Delayed speech and language development; Craniosynostosis; Atrial septal defect; Patent ductus arteriosus; Recurrent lower respiratory tract infections

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006565.4:c.615_618del	1	NA	Mental Retardation, Autosomal Dominant 21

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Remarks

Mutation identified in proband is de novo.

References

Bastaki et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615502.3	United Arab Emirates	Global developmental delay; Failure to thrive; Strabismus	Male	No	Yes	de novo mutation