Rare Disease Library

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frasier syndrome

FRAXF syndrome

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Fryns-Smeets-Thiry syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mietens syndrome

Intellectual disability, Mietens-Weber type

N syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

W syndrome

Pallister-W syndrome