Rare Disease Library

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Free sialic acid storage disease

Free sialic acid storage disorder · FSASD

Adult Refsum disease

Classic Refsum disease · HMSN 4

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Kleefstra syndrome

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Kleefstra syndrome due to a point mutation

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Femoral-facial syndrome

FFS · FHUFS