601067.2

Country

United Arab Emirates

HPO Terms

Profound sensorineural hearing impairment; Abnormality of retinal pigmentation; Recurrent ear infections; Recurrent fever; Inguinal hernia; Asthma
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_022124.6:c.5237G>A2NA
NM_000046.5:c.475C>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
601067.3United Arab EmiratesCongenital sensorineural hearing impairmentUnknownOne patient exhibiting a large deletion
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