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

A degree of language development that is significantly below the norm for a child of a specified age.

Incapability to ambulate.

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.

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.

A type of Developmental delay characterized by a delay in acquiring motor skills.

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

An abnormality in which the mandible is mislocalised posteriorly.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Generalized muscular hypotonia (abnormally low muscle tone).

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

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