600060.3.2

Country

United Arab Emirates

HPO Terms

Infantile sensorineural hearing impairment; Intellectual disability; Spastic paraplegia
Back to search Result
Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015404.4:c.1267C>T1
NM_000260.4:c.5660C>T2

Remarks

Sibling of 600060.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600060.3.1United Arab EmiratesInfantile sensorineural hearing impairmentMaleYes
600060.3.3United Arab EmiratesInfantile sensorineural hearing impairmentMaleYesSibling of 600060.3.1
600060.3.4United Arab EmiratesCongenital sensorineural hearing impairmentMaleYesFirst cousin once removed of 600060.3.1
600060.3.5United Arab EmiratesCongenital sensorineural hearing impairmentFemaleYesSibling of 600060.3.4
600060.3.6United Arab EmiratesCongenital sensorineural hearing impairmentFemaleYesSibling of 600060.3.4
Back to search Result
© CAGS 2024. All rights reserved.