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3rd March 2024

X-linked recessive

X-linked recessive conditions usually affect males, with females acting as carriers unless the female has a homozygous genotype. Females may have mild phenotypes due to skewed X-inactivation. Examples include:
Alport syndrome Wiskott-Aldrich syndrome
Duchenne’s muscular dystrophy X-linked agammaglobulinaemia
Becker’s muscular dystrophy X-linked severe combined immunodeficiency (SCID)
Fragile X syndrome Kabuki syndrome
Fabry disease Hunter’s syndrome
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Lesch-Nyhan syndrome
Haemophilia A and B Nephrogenic diabetes insipidus

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