259450.3

Country

United Arab Emirates

HPO Terms

Arthrogryposis multiplex congenita; Global developmental delay; Generalized hypotonia; Macrocephaly; Metopic synostosis; Ventricular septal defect; Hearing impairment; Abnormal facial shape

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021939.4:c.354del	2		Bruck Syndrome 1

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References

Alabdullatif et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259450.1	United Arab Emirates	Multiple prenatal fractures; Osteopenia; Scoliosis; Wormian bones	Male	Yes	Yes
259450.2	United Arab Emirates	Kyphosis; Spinal cord compression; Recurrent fractures; Brachycephaly; Kyphoscoliosis	Female		Yes