Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

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.

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.

Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.

Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.

Increased concentration of lactate in the cerebrospinal fluid.

Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis

Underdevelopment of the vermis of cerebellum.

Complete lack of development of speech and language abilities.

A profound delay in the achievement of motor or mental milestones in the domains of development of a child.

A type of spasticity that affects one or more limbs (arms or legs).

Atrophy of the cortex of the cerebrum.

Partial or complete wasting (loss) of brain tissue that was once present.

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 limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.

Difficulty to maintain correct position of the head while standing or sitting.

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

Generalized muscular hypotonia (abnormally low muscle tone).

Head circumference below 2 standard deviations below the mean for age and gender.

Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.

Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).

Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).

Anterior positioning of the nasal root in comparison to the usual positioning for age.

An eye that is more deeply recessed into the plane of the face than is typical.

A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.

A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.

A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.