225400.4.1

Country

United Arab Emirates

HPO Terms

Generalized hypotonia; Dolichocephaly; Spindle-shaped finger; Laryngomalacia; Kyphosis; Joint laxity; Wrist drop; Acetabular dysplasia; Delayed gross motor development; Abnormal myelination

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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_000302.4:c.955C>T	2		Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

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References

Al-Gazali et al. 1997;
Giunta et al. 2005

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225400.4.2	United Arab Emirates	Generalized hypotonia; Spindle-shaped finger; Kyphosis; Joint laxity; Wrist drop	Female	Yes	Yes	Sibling of 225400.4.1