- Multiple exostoses (HP:0002762): Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: PCS. (PMID:11739418;http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: PCS. (ISBN-13:978-0721606156)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. (ISBN-13:978-0721606156)
- Abnormal carpal morphology (HP:0001191): An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: PCS. (ISBN-13:978-0721606156)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- 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. (PMID:11739418;http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Limited elbow movement (HP:0002996). Evidence: PCS. (OMIM:127300)
- Dorsal subluxation of ulna (HP:0006459): Partial dislocation of the ulna in the dorsal direction. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- 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: PCS. (ISBN-13:978-0721606156)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. (PMID:11739418;http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Increased carrying angle (HP:0003102): An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: PCS. (ISBN-13:978-0721606156)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Madelung deformity (HP:0003067): An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: PCS. (ISBN-13:978-0721606156)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. (ISBN-13:978-0721606156)
- Limited wrist movement (HP:0006248): An abnormal limitation of the mobility of the wrist. Evidence: PCS. (OMIM:127300)
- 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. (OMIM:127300)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Abnormal metatarsal morphology (HP:0001832): Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). Evidence: PCS. (ISBN-13:978-0721606156)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: PCS. (ISBN-13:978-0721606156)
These phenotypes are associated with the disease Leri-Weill dyschondrosteosis (OMIM:127300).