Some affected individuals may develop hearing (auditory) loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues.

On the cellular level, cells of affected individuals exhibit chromosomal abnormalities, genomic instability, and sensitivity to mutagens.

Many affected individuals exhibit additional physical abnormalities.

Nevertheless, early treated subjects as a group exhibit various detectable abnormalities (box 1).

Knockout mice also exhibit cerebellar abnormalities and an increase in the number of sympathetic neurons.

Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeletal abnormalities.

During the onset of a seizure, the patient may exhibit abnormal body posturing, sensorimotor tics, or other abnormalities in motor skills.

Some affected females may exhibit additional physical abnormalities, such as malformations of the head and facial (craniofacial) area.

You and An Roque are both exhibiting abnormalities.

Some patients also exhibit epilepsy and neuropsychiatric abnormalities.