610612.4.1

Country

Algeria

HPO Terms

Congenital nystagmus; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Visual acuity light perception without projection; Abnormality of retinal pigmentation

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_183059.2:c.137_138del	2		Leber Congenital Amaurosis 12

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Remarks

No other relatives reported.

References

Perrault et al. 2013