- Hypomimic face (HP:0000338): A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormality of the liver (HP:0001392): An abnormality of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Micronodular cirrhosis (HP:0001413): A type of cirrhosis characterized by the presence of small regenerative nodules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Bradykinesia (HP:0002067): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormal globus pallidus morphology (HP:0002453): An abnormality of the globus pallidus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormal circulating inorganic divalent cation concentration (HP:0010927): An abnormality of divalent inorganic cation homeostasis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormal myelination (HP:0012447): Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormal basal ganglia MRI signal intensity (HP:0012751): A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Abnormal transferrin saturation (HP:0040135): Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:309854)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Abnormality of coagulation (HP:0001928): An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Hyperglycinemia (HP:0002154): An elevated concentration of glycine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Spastic paraparesis (HP:0002313): Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Astrocytosis (HP:0002446): Proliferation of astrocytes in the area of a lesion of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Abnormality of amino acid metabolism (HP:0004337): Abnormality of an amino acid metabolic process. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Poor fine motor coordination (HP:0007010): An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Decreased circulating ferritin concentration (HP:0012343): Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Increased total iron binding capacity (HP:0025196): An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Copper accumulation in liver (HP:0025321): An anomalous build up of copper (Cu) in the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
- Decreased circulating vitamin E concentration (HP:0100513): A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:309854)
These phenotypes are associated with the disease Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854).