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. 2024 Jul 29;19:282. doi: 10.1186/s13023-024-03288-6

Table 1.

Overview of problems with age of onset or diagnosis reported in adulthood in ascending order

Symptom (number of adult individuals) Age of onset or age at diagnosis (in years)
Optic disc pallor (N = 1) 18
Several psychobehavioral problems such as autistic-like behavior, attention deficit hyperactivity disorder, high levels of frustration and mood abnormalities/disorder (N = 1) 19
Depression (N = 2) 18, 22
Anxiety (N = 3) 18, 19, 20 s
Valve defect (N = 1) 20
Acid reflux (N = 1) 21
Tremors (N = 1) 21
Arthritis (N = 2) 21, 35
Vision decline (N = 3) 20 s, 21, adult-age (exact age not specified)
Obesity (N = 2) Early adulthood, 23
Decreased mobility (N = 1) 30
Ligament tears (N = 1) 30
Dilated aorta (N = 1) 30
Inflammatory Bowel Disease (N = 1) 35
Sleep problems such as difficulties staying asleep/awaking frequently during the night and increased need for sleep (N = 1) 40 s
Numbness, tingling or painful sensation in muscles (N = 1) 42
Dilated left ventricle (N = 1) 45
Hypertension (N = 1) 45–50
Seizures (N = 3) 18, 23, 49
Cataracts (N = 2) 22, 49