hereditary motor and sensory neuropathy X-linked
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alsoKnownAs |
gptkb:CMTX
Charcot-Marie-Tooth disease X-linked |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary motor and sensory neuropathy X-linked
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GJB1
|
| gptkbp:OMIM |
302800
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle weakness
sensory loss |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GJB1
|
| gptkbp:bfsLayer |
7
|