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GENATLAS PHENOTYPE

last update : 19-10-2016

Symbol	DHMN7A
Location	2q12.3
Name	distal hereditary motor neuronopathy, type 7
Other name(s)	hereditary distal spinal muscular atrophy with vocal cord paralysis
Corresponding gene	SLC5A7
Other symbol(s)	DHMNVP, DSMA7, HMN7A
Main clinical features	axonal, characterized by onset in the teens, with weakness and wasting of small muscles of hand and feet associated with diaphragm and unilateral or bilateral vocal cord paralysis, normal motor and sensory nerve conduction velocities, slowly progressive
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)