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OMIM ID
604320
OMIM term:
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
Alternative terms:
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI; DHMN6
HMN6
HMN VI
SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; SIANRF
NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE
SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC
(∗) Location:
11q13.3
(†) Associated OMIM genes:
IGHMBP2
(‡) Associated MGI genes:
Ighmbp2
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