The presence of free hemoglobin in the urine.

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).

The presence of inflammatory changes in the gallbladder.

Hard, pebble-like deposits that form within the gallbladder.

Abnormally increased size of the liver.

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

A reduction in erythrocytes volume or hemoglobin concentration.

A kind of anemia in which the volume of the red blood cells is normal.

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.

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Reduced strength of muscles.

Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

Abnormal increased size of the spleen.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

An increased amount of bilirubin in the blood.

An elevated level of the enzyme lactate dehydrogenase in the blood circulation.

An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.

Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.

Diminished length of the neck.

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

Hair on the neck extends more inferiorly than usual.

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).