615987.G.2.2

Country

Tunisia

HPO Terms

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

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.509T>C

Remarks

Unknown number of patients from family 'III.13' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.G.2.1TunisiaRetinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphologyUnknownNoUnknown number of patients from family 'V.27' in the publication
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