Table 1 Clinical symptoms/development by body region and age, and supplementary diagnostics (except brain imaging)

 Sensory-motor

Hypotonic, weak sucking reflex, torticollis

Neonatal

Delayed early motor development––(independent sitting at 11 months, walking at 21 months)

Infancy

Dystonia

 Lower limbs (gait dystonia)

12–13

 Upper limbs (jerky action tremor)

14

 Axial (trunk opistotonus, retro- and torticollis, tongue protrusion, jaw opening, face grimacing)

15–16

 Cognitive/emotional

Delayed eye contact

Infancy

Spoken language with few-word sentences, reduced vocabulary. Sign language good

Childhood

“ADHD”––diagnosis

6–7

Learning difficulties. Reduced social skills

9–10

Anxiety, rage outbreaks, hyperimpulsivity

18–19

 Auditory system

Bilateral deafness

Infancy

 Cranio-facial

Dysmorphic facial features coarser with age Hypertelorism/broad nasal root/flat malar region in infancy, changing to prominent/long nose with thick nares and high nasal root. Mild ptosis bilaterally Dysplastic, simple ears. High palate

Progression with age

 Gastro-intestinal

Esophageal reflux/vomiting. Constipation, enemas

Infancy

 Musculo-skeletal

Contractures PIP-joint dig. III-V ri. hand + dig.IV-V le

12–13

Anteverted scapulae, thoracic kyphosis

14

 Cranium

 Thorax

 Abdomen

 Urinary tract