604232.3

Country

United Arab Emirates

HPO Terms

Retinal dystrophy; Delayed speech and language development; Hearing impairment; Abnormal facial shape
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018418.5:c.288T>A2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604232.2United Arab EmiratesVisual impairmentMaleNoYes
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