Sign Up for a Free Account

This is an image preview.
Start a Free Account
to view the full image.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

Family pedigree of a patient with Fabry disease showing the x-linked pattern of inheritance (2)

The index patient (propositus) is marked with a black arrow. Affected males are indicated by solid black squares; female carriers are indicated by a round black circle within the larger circle denoting a woman. Numbers within symbols denote the number of male or female relatives; a question mark denotes subjects unavailable for biochemical and genetic evaluation due to refusal or death. Note how the disease appears to "skip" a generation. (Source: Cianci V, Pascarella A, Manzo L, et al. Late-onset Fabry disease due to the p.Phe113Leu variant: the first Italian cluster of five families. Metab Brain Dis 2023;38[6]:1905-12. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

Related Article

Associated Disorders

  • Atypical heterozygotes
  • Autonomic neuropathy
  • Cerebral infarction
  • Glycosphingolipidosis
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Renal failure