Dataset | ClinVar Gene-Phenotype Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. (Orphanet Rare Disease Ontology, Orphanet_168572) |
External Link | http://www.omim.org/entry/255995 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symbol | Name |
---|---|
STAC3 | SH3 and cysteine rich domain 3 |