Phenotypes associated with the disease mucopolysaccharidosis, type 10 (OMIM:619698):
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Spatulate ribs (HP:0012307): Ribs that are increased in width and taper to the posterior ends. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Thickened aortic valve cusp (HP:0031568): An abnormally increased thickness of a leaflet of the aortic valve. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Broad clavicle (HP:0000916): Increased width (cross-sectional diameter) of the clavicles. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Irregular acetabular roof (HP:0008833). Evidence: PCS. (PMID:34916232)
- Diastema (HP:0000699): Increased space between two adjacent teeth in the same dental arch. Evidence: PCS. Frequency: 1/4. (PMID:34916232)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/4. (PMID:34916232)
- Posterior scalloping of vertebral bodies (HP:0005121): An excessive concavity of the posterior surface of one or more vertebral bodies. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Vitreous floaters (HP:0100832): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Dermatan sulfate excretion in urine (HP:0008301): An increased concentration of dermatan sulfate in the urine. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- 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:34916232)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 1/4. (PMID:34916232)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- 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: PCS. Frequency: 1/4. (PMID:34916232)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 2/4. (PMID:34916232)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: PCS. Frequency: 4/4. (PMID:34916232)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 4/4. (PMID:34916232)