A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3662543019
X-linked distal hereditary motor neuropathy type 3
Active
Synonym
false
false
3662544013
X-linked distal spinal muscular atrophy type 3
Active
Synonym
false
false
3662545014
ATP7A (ATPase copper transporting alpha) related distal motor neuropathy