- Ectopic ossification (HP:0011986): Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:337)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Abnormal hallux morphology (HP:0001844): This term applies for all abnormalities of the big toe, also called hallux. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Fused cervical vertebrae (HP:0002949): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Spinal rigidity (HP:0003306): Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Abnormality of the first metatarsal bone (HP:0010054): An anomaly of the first metatarsal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Ectopic ossification in muscle tissue (HP:0011987): Formation of abnormal bony tissue within muscle tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Ectopic ossification in ligament tissue (HP:0011989): Formation of abnormal bony tissue within ligament tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Osteochondroma (HP:0030431): A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:337)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Abnormal femoral neck morphology (HP:0003367): An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Hip pain (HP:0030838): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:337)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Enchondroma (HP:0030038): A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Synostosis of joints (HP:0100240): The abnormal fusion of neighboring bones across a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:337)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:337)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:337)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:337)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:337)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:337)
These phenotypes are associated with the disease Fibrodysplasia ossificans progressiva (ORPHA:337).