Rare Disease Library

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Bloom syndrome

BSyn

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

Imperforate oropharynx-costovertebral anomalies syndrome

Seghers syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH