Rare Disease Library

Åland Islands eye disease

AIED · Forsius-Eriksson syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Acropectorovertebral dysplasia

F syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Moebius syndrome

Möbius syndrome

Nelson syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots