Mutations in SCAPER may be associated with a number of phenotypic features, including the Bardet-Biedl syndrome. Mutations in SCAPER may be associated with a ciliopathy.
Chromosome: 15q24.3
Gene: SCAPER (S-hase cyclin A associated protein residing in the endoplasmic reticulum)
Inheritance: autosomal recessive
Clinical features:
(1) retinitis pigmentosa
(2) intellectual disability
(3) attention-deficit/hyperactivity disorder or autism
(4) other ophthalmologic problems (cataracts, strabismus, nystagmus, keratoconus)
Features of Bardet-Biedl syndrome:
(1) obesity
(2) short stature
(3) brachydactyly
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