Rare Disease Library

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

BRESEK syndrome

BRESHECK syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Cat-eye syndrome

CES

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Muenke syndrome

Mulibrey nanism

Muscle-liver-brain-eye nanism · MUL

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Reye syndrome