204000.8

Country

Saudi Arabia

HPO Terms

Retinal dystrophy
Back to search Result
Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000180.4:c.416T>C2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.9Saudi ArabiaRetinal dystrophyUnknownNo
204000.10Saudi ArabiaVisual impairment; NystagmusFemaleNoYes
204000.11Saudi ArabiaVisual impairment; Nystagmus; Eye pokingFemaleNoYes
204000.12Saudi ArabiaVisual impairment; Nystagmus; Eye poking; Neurodevelopmental delayFemaleNoYes
204000.13Saudi ArabiaVisual impairment; Nystagmus; Eye poking; Neurodevelopmental delayFemaleNoYes
204000.14Saudi ArabiaVisual impairment; Nystagmus; Eye poking; Neurodevelopmental delayMaleNoYes
Back to search Result
© CAGS 2024. All rights reserved.