615981.2

Country

Tunisia

HPO Terms

Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology
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Sex

Unknown

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_031885.4:c.565C>T 2 NA

Remarks

Patient from family '57008' in the publication

References

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