Rare Disease Library

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Acquired generalized lipodystrophy

Acquired lipoatrophic diabetes · Lawrence syndrome

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Blue rubber bleb nevus

Bean syndrome · BRBN

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease