615985.G.1

Country

Tunisia

HPO Terms

Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology
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Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_144596.3:c.489+1G>A 4 NA

Remarks

One patient each from families '57006 &57019' in the publication

References

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