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1.

Amyotrophic lateral sclerosis type 21

Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

MedGen UID:
813851
Concept ID:
C3807521
Disease or Syndrome
2.

Bowing of the vocal cords

Bowing (abnormal curvature) of the vocal folds. [from HPO]

MedGen UID:
96005
Concept ID:
C0396064
Finding

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