Rare Disease Library

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Birt-Hogg-Dubé syndrome

Hornstein-Knickenberg syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Kleine-Levin syndrome

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

Lichtenstein syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Robinow-like syndrome

Saal-Greenstein syndrome

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome