- Achilles tendon contracture (HP:0001771, a Human Phenotype Ontology term): A contracture of the Achilles tendon. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Elevated circulating creatine kinase activity (HP:0003236, a Human Phenotype Ontology term): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Progressive (HP:0003676, a Human Phenotype Ontology term): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:18179888)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Hamstring contractures (HP:0003089, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Scapular winging (HP:0003691, a Human Phenotype Ontology term): Abnormal protrusion of the scapula away from the surface of the back. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Limited neck flexion (HP:0005991, a Human Phenotype Ontology term): Reduced ability to lower the chin towards the chest by bending the neck. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Arrhythmia (HP:0011675, a Human Phenotype Ontology term): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: PCS. Frequency: 1/9. (PMID:18179888)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/7. (PMID:18179888)
- Hypertrophic cardiomyopathy (HP:0001639, a Human Phenotype Ontology term): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 4/7. (PMID:18179888)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:18179888)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Rimmed vacuoles (HP:0003805, a Human Phenotype Ontology term): Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. Evidence: IEA. (OMIM:300696)
- Back pain (HP:0003418, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Scapuloperoneal weakness (HP:0003704, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. (PMID:18179888)
- Skeletal muscle hypertrophy (HP:0003712, a Human Phenotype Ontology term): Abnormal increase in muscle size and mass not due to training. Evidence: PCS. Frequency: 9/9. (PMID:18179888)
- Spinal rigidity (HP:0003306, a Human Phenotype Ontology term): Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. Evidence: PCS. (PMID:18179888)
- EMG: myopathic abnormalities (HP:0003458, a Human Phenotype Ontology term): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: PCS. Frequency: 7/8. (PMID:18179888)
- Increased variability in muscle fiber diameter (HP:0003557, a Human Phenotype Ontology term): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/1. (PMID:18179888)
These phenotypes are associated with the disease X-linked myopathy with postural muscle atrophy (OMIM:300696, an entry in Online Mendelian Inheritance in Man).