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- Neonatal
- Neonatal hypotonia
- Failure to thrive
- Genital hypoplasia
- Hypopigmentation of the skin, iris, and hair
- Childhood
- Excessive eating and gradual development of morbid obesity
- Delayed Motor milestones and language development
- Cognitive impairment.
- decreased visual acuity
- iris and choroid hypopigmentation
- refractive error
- Myopia 40%
- Hyperopia 25%
- Astigmatism 25%
- Amblyopia 16%
- Strabismus 40%
- congenital ocular fibrosis syndrome
- cataracts
- diabetic retinopathy
- nystagmus
- congenital ectropion uvea
- There is also an overlap between Prader-Willi Syndrome and oculocutaneous albinism that is attributed to the deletion of the OCA2 gene found in the PWS critical region.
- Scoliosis
- loss of the paternal copy of chromosome region 15q11-q13
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