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Neuronopathy, distal hereditary motor, autosomal recessive

rare

Autosomal recessive form of distal hereditary motor neuropathy.

Identifiers: MONDO:0015363 Orphanet:140468
Part of: Autosomal recessive disease Distal hereditary motor neuropathy
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

All diseases Rare only

Disease	ID	Subtypes	Genes
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

Rare disease

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