- 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:98908)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98908)
- Pineal cyst (HP:0012683): A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98908)
- Shoulder girdle muscle weakness (HP:0003547): The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98908)
- Progressive proximal muscle weakness (HP:0009073): Lack of strength of the proximal muscles that becomes progressively more severe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98908)
- Increased intramyocellular lipid droplets (HP:0012240): An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98908)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98908)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- 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:98908)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- 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:98908)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Gowers sign (HP:0003391): A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Pelvic girdle muscle weakness (HP:0003749): Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Very long chain fatty acid accumulation (HP:0008167). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98908)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Neck muscle weakness (HP:0000467): Decreased strength of the neck musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Rimmed vacuoles (HP:0003805): Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Chronic pancreatitis (HP:0006280): A chronic form of pancreatitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Generalized limb muscle atrophy (HP:0009055): Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Progressive distal muscle weakness (HP:0009063): Progressively reduced strength of the distal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
- Hand muscle weakness (HP:0030237): Reduced strength of the musculature of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98908)
These phenotypes are associated with the disease Neutral lipid storage disease with myopathy (ORPHA:98908).
The following phenotypes are NOT associated with this disease:
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. (ORPHA:98908)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. (ORPHA:98908)