- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: PCS. Frequency: 28/28. (PMID:15324318)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 15/28. (PMID:15324318)
- Delayed eruption of teeth (HP:0000684, a Human Phenotype Ontology term): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: PCS. Frequency: 16/28. (PMID:15324318)
- Hypoplasia of the odontoid process (HP:0003311, a Human Phenotype Ontology term): Developmental hypoplasia of the dens of the axis. Evidence: IEA. (OMIM:253200)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 28/28. (PMID:15324318)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 28/28. (PMID:15324318)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: PCS. Frequency: 5/28. (PMID:15324318)
- Hypoplastic acetabulae (HP:0003274, a Human Phenotype Ontology term): Underdeveloped acetabulae. Evidence: IEA. (OMIM:253200)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 16/25. (PMID:15324318)
- Avascular necrosis (HP:0010885, a Human Phenotype Ontology term): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: IEA. (OMIM:253200)
- Pulmonic regurgitation (HP:0010444, a Human Phenotype Ontology term): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: PCS. Frequency: 4/28. (PMID:15324318)
- Coarse facial features (HP:0000280, a Human Phenotype Ontology term): 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: 28/28. (PMID:15324318)
- Split hand (HP:0001171, a Human Phenotype Ontology term): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: PCS. Frequency: 38/38. (PMID:15324318;OMIM:253200)
- Caesarean section (HP:0011410, a Human Phenotype Ontology term): Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). Evidence: PCS. Frequency: 16/28. (PMID:15324318)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 9/25. (PMID:15324318)
- Reduced leukocyte arylsulfatase B activity (HP:0034861, a Human Phenotype Ontology term): Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal. Evidence: TAS. (OMIM:253200)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 16/28. (PMID:15324318)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:253200)
- Genu valgum (HP:0002857, a Human Phenotype Ontology term): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 24/28. (PMID:15324318)
- Epiphyseal dysplasia (HP:0002656, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:253200)
- Macroglossia (HP:0000158, a Human Phenotype Ontology term): Increased length and width of the tongue. Evidence: PCS. Frequency: 18/28. (PMID:15324318)
- Hirsutism (HP:0001007, a Human Phenotype Ontology term): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 26/28. (PMID:15324318)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: PCS. Frequency: 0/28. (PMID:15324318)
- Disproportionate short-trunk short stature (HP:0003521, a Human Phenotype Ontology term): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: IEA. (OMIM:253200)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 22/28. (PMID:15324318)
- Hip dysplasia (HP:0001385, a Human Phenotype Ontology term): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 15/28. (PMID:15324318)
- Joint stiffness (HP:0001387, a Human Phenotype Ontology term): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: IEA. (OMIM:253200)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 20/28. (PMID:15324318)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: PCS. Frequency: 22/28. (PMID:15324318)
- Constrictive median neuropathy (HP:0012185, a Human Phenotype Ontology term): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: PCS. Frequency: 15/38. (PMID:15324318;OMIM:253200)
- Flared iliac wing (HP:0002869, a Human Phenotype Ontology term): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: IEA. (OMIM:253200)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 26/28. (PMID:15324318)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: IEA. (OMIM:253200)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 22/28. (PMID:15324318)
- Prominent sternum (HP:0000884, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:253200)
- Recurrent upper respiratory tract infections (HP:0002788, a Human Phenotype Ontology term): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: IEA. (OMIM:253200)
- Hypoplastic iliac wing (HP:0002866, a Human Phenotype Ontology term): Underdevelopment of the ilium ala. Evidence: IEA. (OMIM:253200)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 27/28. (PMID:15324318)
- Broad ribs (HP:0000885, a Human Phenotype Ontology term): Increased width of ribs. Evidence: IEA. (OMIM:253200)
- Metaphyseal widening (HP:0003016, a Human Phenotype Ontology term): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. (OMIM:253200)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 8/28. (PMID:15324318)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 10/28. (PMID:15324318)
- Thickened skin (HP:0001072, a Human Phenotype Ontology term): Laminar thickening of skin. Evidence: PCS. Frequency: 26/28. (PMID:15324318)
- Chronic constipation (HP:0012450, a Human Phenotype Ontology term): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 2/28. (PMID:15324318)
- Anterior wedging of L1 (HP:0008432, a Human Phenotype Ontology term): An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). Evidence: TAS. (OMIM:253200)
- Cervical myelopathy (HP:0002318, a Human Phenotype Ontology term): A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine. Evidence: IEA. (OMIM:253200)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 19/28. (PMID:15324318)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 24/28. (PMID:15324318)
- Carious teeth (HP:0000670, a Human Phenotype Ontology term): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 13/28. (PMID:15324318)
- Metaphyseal irregularity (HP:0003025, a Human Phenotype Ontology term): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:253200)
- Ovoid vertebral bodies (HP:0003300, a Human Phenotype Ontology term): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: IEA. (OMIM:253200)
- Pulmonary arterial hypertension (HP:0002092, a Human Phenotype Ontology term): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 4/28. (PMID:15324318)
- Sinus tachycardia (HP:0011703, a Human Phenotype Ontology term): Heart rate of greater than 100 beats per minute. Evidence: PCS. Frequency: 12/28. (PMID:15324318)
- Pneumonia (HP:0002090, a Human Phenotype Ontology term): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 16/28. (PMID:15324318)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:253200)
- Restrictive ventilatory defect (HP:0002091, a Human Phenotype Ontology term): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 9/28. (PMID:15324318)
- Sleep apnea (HP:0010535, a Human Phenotype Ontology term): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: PCS. Frequency: 23/28. (PMID:15324318)
- Anterior wedging of L2 (HP:0011941, a Human Phenotype Ontology term): An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). Evidence: TAS. (OMIM:253200)
- Mitral stenosis (HP:0001718, a Human Phenotype Ontology term): An abnormal narrowing of the orifice of the mitral valve. Evidence: PCS. Frequency: 2/28. (PMID:15324318)
- Dermatan sulfate excretion in urine (HP:0008301, a Human Phenotype Ontology term): An increased concentration of dermatan sulfate in the urine. Evidence: IEA. (OMIM:253200)
- Dysostosis multiplex (HP:0000943, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:253200)
- Cardiomyopathy (HP:0001638, a Human Phenotype Ontology term): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: IEA. (OMIM:253200)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: IEA. (OMIM:253200)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 2/28. (PMID:15324318)
These phenotypes are associated with the disease mucopolysaccharidosis type 6 (OMIM:253200, an entry in Online Mendelian Inheritance in Man).