601552.3

Saudi Arabia

Visual loss; Lens subluxation; Iris atrophy; Large beaked nose; Retrognathia;

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004318.3:c.1852_1856delAACCTinsGGG	2		Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs