Rare Disease Library

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures