- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. (OMIM:135100)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:34347384)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:135100)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:135100)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. (OMIM:135100)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. (OMIM:135100)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:17077940)
- Hamartoma (HP:0010566): A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. Evidence: IEA. (OMIM:135100)
- Delayed toe phalanx ossification (HP:6000952): Delayed maturation and calcification of any of the toe phalanges. Evidence: PCS. (PMID:33364240)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: TAS. (OMIM:135100)
- Abnormality of the first metatarsal bone (HP:0010054): An anomaly of the first metatarsal bone. Evidence: TAS. (OMIM:135100)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: TAS. (OMIM:135100)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:17077940)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:34347384)
- 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: TAS. (OMIM:135100)
- Basal ganglia calcification (HP:0002135): The presence of calcium deposition affecting one or more structures of the basal ganglia. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:135100)
- Limitation of neck motion (HP:0005986). Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:34347384)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:135100)
- Ectopic ossification in muscle tissue (HP:0011987): Formation of abnormal bony tissue within muscle tissue. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:16642017)
- Ectopic ossification in muscle tissue (HP:0011987): Formation of abnormal bony tissue within muscle tissue. Evidence: PCS. Frequency: 1/1. (PMID:34347384)
- Ectopic ossification in tendon tissue (HP:0011988): Formation of abnormal bony tissue within tendon tissue. Evidence: TAS. (OMIM:135100)
- Ectopic ossification in ligament tissue (HP:0011989): Formation of abnormal bony tissue within ligament tissue. Evidence: TAS. (OMIM:135100)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. (OMIM:135100)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. (OMIM:135100)
- Small cervical vertebral bodies (HP:0004629): Reduced size of cervical vertebrae. Evidence: TAS. (OMIM:135100)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. (OMIM:135100)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. (OMIM:135100)
- 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:16642017)
- Progressive cervical vertebral spine fusion (HP:0008449). Evidence: TAS. (OMIM:135100)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. (OMIM:135100)
These phenotypes are associated with the disease fibrodysplasia ossificans progressiva (OMIM:135100).