610623.G.1.2

Lebanon

Bilateral microphthalmos; Corneal opacity; Profound global developmental delay; ;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005029.3:c.650delG	4		Cataract 11, Multiple Types

2 affected homozygote brothers. Same family as 610623.G.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610623.G.1.1	Lebanon	Reduced visual acuity; Posterior polar cataract ;		Yes	No	23 affected heterozygotes in the same family