Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 (HMNR4)

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4(来自ICD-11)

别称:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Dsma4

Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 4

Distal Spinal Muscular Atrophy, Autosomal Recessive, 4

Hmnr4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4, also known as spinal muscular atrophy, distal, autosomal recessive, 4, is related to distal spinal muscular atrophy type 4 and amyotrophic lateral sclerosis 1, and has symptoms including waddling gait An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include spinal cord, and related phenotypes are scoliosis and hyperlordosis

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