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1.

Friedreich ataxia 2

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13. [from OMIM]

MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
2.

Muscular subvalvular aortic stenosis

A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. [from HPO]

MedGen UID:
854407
Concept ID:
C3887554
Anatomical Abnormality

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