204000.G.1

Country

Saudi Arabia

HPO Terms

Retinal dystrophy
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Sex

Unknown

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020184.4:c.734C>T4+

Remarks

Family with unknown number of affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.G.2Saudi ArabiaRetinal dystrophy; Global developmental delay; Developmental regression; SeizureUnknownNoFamily with unknown number of affected members
204000.G.3Saudi ArabiaRetinal dystrophyUnknownNoFamily with unknown number of affected members
204000.G.4Saudi ArabiaRetinal dystrophyUnknownNoFamily with unknown number of affected members
204000.G.5Saudi ArabiaCone/cone-rod dystrophyUnknownYesFamily with unknown number of affected members
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