" /> Neuronopathy, distal hereditary motor, autosomal recessive 1 - CISMeF





Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 1;

Symbol : HMNR1;

CISMeF acronym : DHMN6; DSMA1; HMN6; SIANRF; SMARD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, autosomal recessive 1; Severe infantile axonal neuropathy with respiratory failure; HMN6; DHMN6; Spinal muscular atrophy with respiratory distress 1; SIANRF; Hmn VI; Spinal muscular atrophy, diaphragmatic; SMARD1; Neuronopathy, severe infantile axonal, with respiratory failure; DSMA1; Spinal muscular atrophy, distal, autosomal recessive, 1; Neuronopathy, distal hereditary motor, harding type VI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin mu binding protein 2 gene (IGHMBP2, 600502.0001);

Prefixed ID : #604320;

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03/05/2025


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