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- Ataxia (incoordination and unsteadiness due to the brain's failure to regulate the body's posture and regulate the strength and direction of limb movements.)
- Muscular Hypotonia in the upper body (decreased tone of skeletal muscles. In a word, floppiness.)
- Unable to stand and walk
- Equinovalgus (a foot abnormality in which the heel is elevated and turned outward from the midline of the body)
- Mental retardation (limitations in mental functioning)
- Speech development disorder (good speech comprehension, yet no speech production)
- Labyrinthine deafness in both ears
- Recruitment (hyper-sensitive ears; unable to tolerate ordinary levels of noise andespecially shrill sounds like children’s voices)
- Pinealoma of unclear origin (a germ cell tumour in the area of the pineal gland/epiphysis of the brain is suspected)
- Symptomatic epilepsy (due to brain damage); fierce fever convulsions in the past; no seizures anymore but short absences
- Hypoplastic right kidney (underdeveloped kidney)
- Vitamin D deficiency
- Osteopenia (mild thinning of the bone mass)
- Ptosis, right eye (droopy eyelid)
- Amblyopia (lazy eye) of the right eye is suspected
- Hyperopia and astigmatism in both eyes (farsightedness and blurred vision)
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