107250.1.1

Saudi Arabia

Microphthalmia; Ocular anterior segment dysgenesis; Sclerocornea;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005029.3:c.640_656del	2		Anterior Segment Dysgenesis 1

First report of AR transmission of ASGD1 . Has an affected first cousin by history, not genotyped

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
107250.1.2	Saudi Arabia	;	Female			Mother of 107250.1.1
107250.1.3	Saudi Arabia	;	Male			Father of 107250.1.1