615986.1.2

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198428.3:c.2258A>T1

Remarks

Father of 615986.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615986.1.1LebanonReduced visual acuity; Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Hepatic fibrosis; Postural instabilityFemaleNoYes
615986.1.3LebanonFemaleMother of 615986.1.1
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