- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Seizure (HP:0001250): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Decreased beta-galactosidase activity (HP:0008166): Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79255)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Intellectual disability (HP:0001249): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Urinary glycosaminoglycan excretion (HP:0003541): Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Increased urinary galactosylated oligosaccharide (HP:0410346): An abnormal increase in the concentration of galactosylated oligosaccharides in urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79255)
- Dysostosis multiplex (HP:0000943). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Cardiomyopathy (HP:0001638): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Exaggerated startle response (HP:0002267): An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Diffuse white matter abnormalities (HP:0007204). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Cherry red spot of the macula (HP:0010729): Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Aspiration pneumonia (HP:0011951): Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- T2 hypointense basal ganglia (HP:0012753): A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79255)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Large sella turcica (HP:0002690): An abnormal enlargement of the sella turcica. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Flared iliac wing (HP:0002869): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Beaking of vertebral bodies T12-L3 (HP:0004562). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Broad long bone diaphyses (HP:0006371): Increased width of the diaphysis of long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Acetabular dysplasia (HP:0008807): A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Spatulate ribs (HP:0012307): Ribs that are increased in width and taper to the posterior ends. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Decerebrate rigidity (HP:0025013): A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Abnormal placenta morphology (HP:0100767): An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Abnormal odontoid tissue morphology (HP:3000050): An abnormality of an odontoid tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79255)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79255)
These phenotypes are associated with the disease GM1 gangliosidosis type 1 (ORPHA:79255).