BRESEK syndrome

Orpha code: 85284OMIM code: 308205

Definicja

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).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
BRESHECK syndrome
Zespół BRESHECK
Kod ORPHA
85284
Kod OMIM
308205
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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