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"neuropathy," distal hereditary "motor," autosomal recessive 5
- ... atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary motor neuronopathy type VI Distal ... muscular atrophy 1 Spinal muscular atrophy ...
- ... variants. The parents of an individual with an autosomal recessive condition each carry ... Charlevoix disease Hereditary motor and sensory neuropathy with agenesis of the corpus ...
- ... sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6): ...
- ... paraplegia type 20 Spastic paraparesis, childhood-onset, with distal muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type SPG20 Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing Registry: Troyer syndrome Autosomal ...