TableĀ 2

Items suggested by patients and experts as an addition to the literature

CategoryPatient suggestionsExpert suggestions
DevelopmentalLearning difficulties
Speech developmental delay
Learning disabilities
ReproductiveAmenorrhoea
Sexual dysfunction
Amenorrhoea
NeurologicalMemory problems
Delayed motor skill development
Hand coordination problems
Hemiplegia/quadriplegia
Mobility impairment
GastrointestinalIrritable bowel syndrome
Portal hypertension
Malabsorption
Portal hypertension
Liver steatosis
MusculoskeletalCraniofacial deformitiesFacial deformities
Muscle wasting
OcularCorneal haze
Retinitis pigmentosa
Corneal opacity
Retinitis pigmentosa
RenalPersistent haematuria
Other
  • Social problems

    Loss of future perspective

    Chronic fatigue

    Surgeries

    Autonomic dysregulation

    Chronic pain

Weight gain
Somatic growth
Chronic fatigue
Dysphonia