BRESEK syndrome

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BRESEK syndrome

Synonyms: BRESHECK syndrome

X-linked mental retardation Reish type is characterised by Brain anomalies severe mental Retardation Ectodermal dysplasia Skeletal deformities (vertebral anomalies scoliosis polydactyly) Ear/eye anomalies (maldevelopment small optic nerves low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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BRESEK syndrome?

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