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Items: 2

1.

Neuronopathy, distal hereditary motor, autosomal recessive 5

HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

MedGen UID:
1667915
Concept ID:
C4749918
Disease or Syndrome
2.

Charcot-Marie-Tooth disease type 2

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]

MedGen UID:
124378
Concept ID:
C0270914
Disease or Syndrome

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