305400.1.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Short stature; Delayed speech and language development; Obesity; Aggressive behavior; Hyperactivity; Abnormal sternum morphology; Brachydactyly; Clinodactyly of the 5th finger; Toe syndactyly; Single transverse palmar crease; Sleep disturbance; Cryptorchidism; Broad forehead; Bilateral ptosis; Blepharophimosis; Telecanthus; Hypertelorism; Epicanthus; Downslanted palpebral fissures; Wide nasal bridge; Short philtrum; Short neck

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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_004463.2:c.53del	1		Aarskog-Scott Syndrome

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References

Hamzeh et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
305400.1.2	United Arab Emirates	Global developmental delay; Short stature; Aggressive behavior; Hyperactivity; Brachydactyly; Clinodactyly of the 5th finger; Broad forehead; Bilateral ptosis; Blepharophimosis; Telecanthus; Hypertelorism; Epicanthus; Downslanted palpebral fissures; Wide nasal bridge; Short philtrum; Short neck	Male	Yes	Yes	Brother of 305400.1.1
305400.1.3	United Arab Emirates		Female	Yes		Mother of 305400.1.1