617660.2.1

Lebanon

Vertebral segmentation defect; Hypoplastic left heart; Renal hypoplasia; Sensorineural hearing impairment

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012205.3:c.558G>A	2		Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617660.2.2	Lebanon		Female			Mother of 617660.2.1
617660.2.3	Lebanon		Male			Father of 617660.2.1