Table 2.

Select Features Associated with Classic WFS1 Spectrum Disorder

FeatureCommonUncommonIncreases w/Age
Diabetes mellitus, childhood onset
Diabetes mellitus, neonatal onset or adult onset
Optic atrophy
Sensorineural hearing impairment
Cataracts
Cerebellar ataxia
Autonomic dysfunction
Bulbar dysfunction
Respiratory issues
Developmental delay (in young children)
Intellectual disability (in older children & adults)
Psychiatric disorders
Urinary tract issues 1
Bowel dysfunction
Seizures
Other endocrine findingsCentral diabetes insipidus
Hypogonadism
Hypothyroidism
Growth restriction
1.

Both functional (neurogenic bladder) and structural (upper urinary tract dilatation)

From: WFS1 Spectrum Disorder

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