601552.1

Country

Lebanon

HPO Terms

Lens subluxation; Abnormal sclera morphology; Shallow anterior chamber; Iris atrophy; Overhanging nasal tip; Dental crowding; Left ventricular hypertrophy ;

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004318.3:c.2203C>T	2		Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs

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Remarks

3 similarly affected sisters not genotyped

References

Patel et al, 2014;
Haddad et al. 2001