- 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: 3/4. (PMID:11381124;PMID:20106987)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:20729548;PMID:20106987)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 1/2. (PMID:11381124)
- 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: 5/5. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/3. (PMID:16075202;PMID:20106987)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 3/3. (PMID:16075202;PMID:11506412;PMID:20729548)
- Ankle contracture (HP:0034677). Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Increased endomysial connective tissue (HP:0100297): An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. Evidence: PCS. Frequency: 3/3. (PMID:11381124;PMID:20106987)
- Finger joint hypermobility (HP:0006094). Evidence: PCS. Frequency: 7/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Esodeviation (HP:0020045): A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. Evidence: PCS. Frequency: 1/2. (PMID:11381124)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 1/1. (PMID:11381124)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 3/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 2/2. (PMID:20729548;PMID:20106987)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Spinal rigidity (HP:0003306): Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. Evidence: PCS. Frequency: 3/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/2. (PMID:11381124;PMID:11506412)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: PCS. Frequency: 1/1. (PMID:11381124)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/3. (PMID:11381124;PMID:11506412)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 2/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 2/2. (PMID:11506412;PMID:20106987)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: PCS. Frequency: 3/6. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- 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: PCS. Frequency: 2/2. (PMID:20106987)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Shoulder contracture (HP:0034665): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Adducted thumb (HP:0001181): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Pes valgus (HP:0008081): An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Knee contracture (HP:0034671): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 6/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 2/6. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 4/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 1/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11381124)
- Reduced muscle collagen VI (HP:0030095): A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. Evidence: PCS. Frequency: 1/1. (PMID:16075202)
- Muscle fiber necrosis (HP:0003713): Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. Evidence: PCS. Frequency: 1/1. (PMID:20106987)
- Elbow contracture (HP:0034391): A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. Evidence: PCS. Frequency: 6/7. (PMID:16075202;PMID:11381124;PMID:11506412;PMID:20729548;PMID:20106987)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:11381124)
- 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: 4/4. (PMID:16075202;PMID:11381124;PMID:20106987)
These phenotypes are associated with the disease Ullrich congenital muscular dystrophy 1B (OMIM:620727).