Phenotypes associated with the disease Bethlem myopathy 2 (OMIM:616471):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/5. (PMID:24334769)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 0/1. (PMID:24334604)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: TAS. (OMIM:616471)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 1/1. (PMID:24334604)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. (PMID:24334604)
- Distal joint hypermobility (HP:0020152): Lack of stability of a distal joint (e.g., finger). Evidence: PCS. Frequency: 1/1. (PMID:24334604)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:24334604)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: PCS. Frequency: 1/5. (PMID:24334769)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 3/5. (PMID:24334769)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/5. Onset: Infantile onset (HP:0003593). (PMID:24334769)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:24334604)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/1. (PMID:24334604)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 2/5. (PMID:24334769)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. (OMIM:616471)
- Stooped posture (HP:0025403): A habitual positioning of the body with the head and upper back bent forward. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:24334604)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 5/5. Onset: Childhood onset (HP:0011463). (PMID:24334769)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 5/5. (PMID:24334769)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:24334604)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/1. (PMID:24334604)