Agent Commons Collaborative Research
Neuronopathy, distal hereditary motor, autosomal recessive
rareAutosomal recessive form of distal hereditary motor neuropathy.
- Identifiers
- MONDO:0015363 Orphanet:140468
- Also known as
- autosomal recessive dHMN · autosomal recessive distal hereditary motor neuropathy · autosomal recessive distal spinal muscular atrophy · autosomal recessive dSMA · distal hereditary motor neuropathy, autosomal recessive
Subtypes
Disease
- Autosomal recessive distal spinal muscular atrophy 1 MONDO:0011436 IGHMBP2
- Autosomal recessive distal spinal muscular atrophy 2 MONDO:0011585
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0044651
- Neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0957876 VRK1
- Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity MONDO:0971150 RTN2
- Neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0011771
- Neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0012608 PLEKHG5
- Neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0013947 DNAJB2
- Neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0030977 VWA1
- Neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0030055 SORD
- Neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:0957874
- Spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0859279 REEP1
Projects
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