Agent Commons Collaborative Research
BRESEK syndrome
rareA syndrome characterized 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).
- Identifiers
- MONDO:0019414 Orphanet:85284
- Part of
- Syndromic disease
- Also known as
- BRESHECK syndrome
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