Unknown
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024685.4:c.509T>C |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615987.G.2.1 | Tunisia | Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | Unknown | No | Unknown number of patients from family 'V.27' in the publication |