- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- Angiokeratoma (HP:0001014): Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. Evidence: PCS. Frequency: 2/2. (PMID:9762612;PMID:36352683)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/2. (PMID:36352683;PMID:8719750)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- 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: 2/2. (PMID:9762612;PMID:36352683)
- Flexion contracture (HP:0001371): 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: 1/1. (PMID:9762612)
- 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: IEA. (OMIM:230000)
- Absent/hypoplastic paranasal sinuses (HP:0005453): Aplasia or hypoplasia of the paranasal sinuses. Evidence: IEA. (OMIM:230000)
- Abnormality of skull size (HP:0000240): Any abnormality of the size of the skull. Evidence: PCS. Frequency: 0/1. (PMID:9762612)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:36352683)
- 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: PCS. Frequency: 0/2. (PMID:37282399)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/5. (PMID:37282399;PMID:8719750)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- 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: 0/1. (PMID:36352683)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:230000)
- Shield chest (HP:0000914): A broad chest. Evidence: TAS. (OMIM:230000)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:230000)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:230000)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- Vacuolated lymphocytes (HP:0001922): The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. Evidence: IEA. (OMIM:230000)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. Frequency: 1/1. (PMID:36352683)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. (OMIM:230000)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- Cervical platyspondyly (HP:0004558): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. Evidence: IEA. (OMIM:230000)
- 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: PCS. Frequency: 1/1. (PMID:9762612)
- Generalized amyotrophy (HP:0003700): Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. Evidence: PCS. Frequency: 1/1. (PMID:9762612)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: IEA. (OMIM:230000)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. (OMIM:230000)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: IEA. (OMIM:230000)
- 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: IEA. (OMIM:230000)
- 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: PCS. Frequency: 4/4. (PMID:37282399;PMID:36352683;PMID:8719750)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 1/1. (PMID:36352683)
- Glycopeptiduria (HP:0012067): Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- 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:9039984)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- 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: PCS. Frequency: 2/2. (PMID:37282399)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 1/1. (PMID:36352683)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: IEA. (OMIM:230000)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: IEA. (OMIM:230000)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: IEA. (OMIM:230000)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:230000)
- Hernia (HP:0100790). Evidence: TAS. (OMIM:230000)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- Anterior beaking of lumbar vertebrae (HP:0008430): Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- Oligosacchariduria (HP:0010471): Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. Evidence: TAS. (OMIM:230000)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- Absent/hypoplastic coccyx (HP:0008436). Evidence: IEA. (OMIM:230000)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: PCS. Frequency: 3/3. (PMID:37282399;PMID:9762612)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: IEA. (OMIM:230000)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:230000)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: IEA. (OMIM:230000)
- Reduced circulating alpha-L-fucosidase activity (HP:0034727): Activity of the enzyme alpha-L-fucosidase below the lower limit of normal. Evidence: PCS. Frequency: 11/11. (PMID:2903668;PMID:9762612)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:9762612)
- Anterior beaking of thoracic vertebrae (HP:0004630): Anterior tongue-like protrusions of thoracic vertebral bodies. Evidence: IEA. (OMIM:230000)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:230000)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/1. (PMID:8719750)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: PCS. Frequency: 1/1. (PMID:36352683)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:37282399)
- Elevated sweat chloride (HP:0012236): An increased concentration of chloride in the sweat. Evidence: TAS. (OMIM:230000)
- Dysostosis multiplex (HP:0000943). Evidence: PCS. Frequency: 3/3. (PMID:37282399;PMID:9762612)
- Tortuosity of conjunctival vessels (HP:0000503): The presence of an increased number of twists and turns of the conjunctival blood vessels. Evidence: IEA. (OMIM:230000)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:230000)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:230000)
These phenotypes are associated with the disease fucosidosis (OMIM:230000).