180090.1

Country

Saudi Arabia

HPO Terms

Retinal degeneration; Seizure; Obesity

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000326.5:c.773T>G	2
NM_175733.4:c.1471C>T	1

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Remarks

This patient has a dual diagnosis of retinitis pigmentosa and epilepsy. He has a variant each in RLBP1 gene (homozygous) and SYT9 gene (heterozygous).

References

Monies et al. 2017