277580.1.1

Country

Lebanon

HPO Terms

Sensorineural hearing impairment; Abnormal iris pigmentation; White forelock; Hypopigmentation of the skin; Aganglionic megacolon
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001122659.3:c.1025G>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277580.1.2LebanonMaleNoYesFather of 277580.1.1
277580.1.3LebanonFemaleNoYesMother of 277580.1.1
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