- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:8793927;PMID:21559944)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Ankle pain (HP:0030840): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 3/3. (PMID:21559944)
- Hip pain (HP:0030838): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Wrist hypermobility (HP:0005072): The ability of the wrist joints to move beyond their normal range of motion. Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Diminished circulating hyaluronidase activity (HP:6000969): The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Popliteal synovial cyst (HP:0032072): A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Finger joint hypermobility (HP:0006094). Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Synovitis (HP:0100769). Evidence: PCS. Frequency: 3/3. (PMID:21559944)
- Hyperextensibility at elbow (HP:0010485): The ability of the elbow joint to move beyond its normal range of motion. Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:21559944)
- Acetabular erosions (HP:0033640): Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- 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:10339581)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Periarticular soft-tissue mass (HP:0020127): A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. Evidence: PCS. Frequency: 1/1. (PMID:8793927)
- Lumbar scoliosis (HP:0004626). Evidence: PCS. Frequency: 1/3. (PMID:21559944)
These phenotypes are associated with the disease mucopolysaccharidosis type 9 (OMIM:601492).