Rare Disease Library

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

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

Fragile X syndrome

FRAXA syndrome · FXS

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frasier syndrome

FRAXF syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hinman syndrome

HAS · HS

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Lateral meningocele syndrome

Lehman syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

N syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Odontotrichomelic syndrome

Freire-Maia syndrome

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

Sheldon-Hall syndrome

SSH · DA2B

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Tricho-retino-dento-digital syndrome

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

W syndrome

Pallister-W syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome