| Case | WFS1 loss of function | Age (years) | Sex | Family history | DM, age of diagnosis | OA, age of diagnosis | HI, age of diagnosis | Other features, age of diagnosis | Reference |
| Homozygous, Frameshift (p.A214SfsX72) | + | 30 | F | Negative | Type I, 3 years | Bilateral, 7 years | Bilateral, 20 years | Abnormal MRI: cerebellar ataxia Dysuria and intermittent urinary incontinence Gastro duodenal hypokinesia | Our study |
| Homozygous, Frameshift (F883fsX951) | + | 42 | M | Negative | ?, 8 years | ?,12 years | ?, 10 years | Abnormal EEG | [21] |
| Heterozygous Frameshift (F883fsX950) | + | 20 | F | Negative | ?, 7 years | ?, 11 years | ?,13 years | Cataract | [21] |
| Homozygous, nonsense (p.Q486X) | + | 35 | M | Negative | ?, 7 years | Bilateral, 10 years | Ability deceased in the late third decade of life, 30 years | Hydronephrosis and hydroureter Hyperreflexia in the lower limbs | [34] |
| Heterozygous, nonsense (p.Q194X) | + | 31 | F | Negative | ?, 5 years | ?, 16 years | ?,? | Retarded puberty Cataract diabetic retinopathy | [18] |
| Compound heterozygous, missense (p.F350I + p.G674R) | - | 42 | M | Negative | Type I, 28 years | Bilateral, 42 years | Bilateral | No | [10] |
| Heterozygous, missense (p.H313Y) | - | 24 | M | Negative | Type I, 10 years | Bilateral, 24 years | Bilateral, 2.5 years | Left-sides glaucoma, 24 years | [10] |