Rare Disease Library

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Beaulieu-Boycott-Innes syndrome · BBIS

Blue rubber bleb nevus

Bean syndrome · BRBN

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Scott syndrome