You are using an outdated browser. Please upgrade your browser to improve your experience.

BRESEK syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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).
Mondo Term and Equivalent IDs
MONDO:0019414:  BRESEK syndrome
MESH:C564519: 
Orphanet:85284: 
SCTID:717945001: 
UMLS:C3502469: