204000.12

Country

Saudi Arabia

HPO Terms

Visual impairment; Nystagmus; Eye poking; Neurodevelopmental delay
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000180.4:c.1401dup2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.8Saudi ArabiaRetinal dystrophyUnknownNo
204000.9Saudi ArabiaRetinal dystrophyUnknownNo
204000.10Saudi ArabiaVisual impairment; NystagmusFemaleNoYes
204000.11Saudi ArabiaVisual impairment; Nystagmus; Eye pokingFemaleNoYes
204000.13Saudi ArabiaVisual impairment; Nystagmus; Eye poking; Neurodevelopmental delayFemaleNoYes
204000.14Saudi ArabiaVisual impairment; Nystagmus; Eye poking; Neurodevelopmental delayMaleNoYes
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