Article

Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous Family

2026-07-14

Abstract excerpt

Consanguinity increases the risk of autosomal recessive disorders and may result in the co-segregation of multiple pathogenic variants within the same family. Although most affected families are explained by a single genetic diagnosis, multilocus pathogenic variation can produce complex and overlapping clinical phenotypes. We investigated a consanguineous Pakistani family with three affected siblings, including di...

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Literature Corpus work: 8d5df051-3ea0-55e4-9c0a-04d019b857e3
DOI: 10.64898/2026.07.09.737440

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Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous FamilyDOI 10.64898/2026.07.09.737440Read

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