Fig. 3: The pattern of inheritance in the families with mutations in known disease genes. | European Journal of Human Genetics

Fig. 3: The pattern of inheritance in the families with mutations in known disease genes.

From: Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Fig. 3

Compound heterozygous inheritance is separated from homozygous autosomal recessive inheritance to highlight the effect of consanguinity. One family, F79, was counted in two inheritance modes as it segregated two likely causative variants with different patterns of inheritance but both possibly contributing to the phenotype as we reported previously (Ref. 19).

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