206920.1.1

Lebanon

Anophthalmia; 2-3 finger syndactyly; Postaxial foot polydactyly; Split hand

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015308.5:c.683C>T	2		Microphthalmia with Limb Anomalies

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
206920.1.2	Lebanon		Male			Unaffected father of 206920.1.1
206920.1.3	Lebanon		Female			Unaffected mother of 206920.1.1