- Shuffling gait (HP:0002362, a Human Phenotype Ontology term): A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
- Scapular winging (HP:0003691, a Human Phenotype Ontology term): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
- Proximal upper limb amyotrophy (HP:0008948, a Human Phenotype Ontology term): Muscular atrophy affecting proximally located muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
- Proximal lower limb amyotrophy (HP:0008956, a Human Phenotype Ontology term): Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
- Generalized limb muscle atrophy (HP:0009055, a Human Phenotype Ontology term): Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
- Facial palsy (HP:0010628, a Human Phenotype Ontology term): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:219)
These phenotypes are associated with the disease Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (ORPHA:219, an Orphanet rare-disease identifier).