204000.G.2

Country

Saudi Arabia

HPO Terms

Retinal dystrophy; Global developmental delay; Developmental regression; Seizure
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000180.3:c.2285del4+

Remarks

Family with unknown number of affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.G.1Saudi ArabiaRetinal dystrophyUnknownYesFamily 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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