616603.2

Country

United Arab Emirates

HPO Terms

Intrauterine growth retardation; Postnatal growth retardation; Abnormal facial shape; Cutis laxa; Joint hypermobility; Thin skin; Hernia; Hip dislocation; Adducted thumb; Talipes equinovarus; Abnormality of the curvature of the vertebral column; Microcephaly; Psychomotor retardation; Cataract

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Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002860.4:c.413G>A	1		Cutis Laxa, Autosomal Dominant 3

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References

Fischer-Zirnsak et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616603.1	United Arab Emirates	Intrauterine growth retardation; Postnatal growth retardation; Cutis laxa; Joint hypermobility; Thin skin; Hernia; Adducted thumb; Microcephaly; Hypotonia; Psychomotor retardation	Male	No	No