617107.1.1

Country

United Arab Emirates

HPO Terms

Tall stature; Global developmental delay; Intellectual disability; Nephroblastoma; Neutropenia; Sensorineural hearing impairment; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Talipes equinovarus; Metatarsus adductus; Tibial bowing; Spina bifida; Ventricular septal defect; Astigmatism; Strabismus; Enlarged kidney; Multicystic kidney dysplasia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004214.5:c.175_176insTAA	2		Thauvin-Robinet-Faivre Syndrome

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References

Akawi et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617107.1.2	United Arab Emirates	Tall stature; Global developmental delay; Intellectual disability; Neutropenia; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Metatarsus adductus; Talipes equinovarus	Male	Yes	Yes	Brother of 617107.1.1
617107.1.3	United Arab Emirates	Global developmental delay; Intellectual disability; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Enlarged kidney; Cystic renal dysplasia	Male	Yes	Yes	Sister of 617107.1.1