Rare Disease Library

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder