Rare Disease Library

Hydrocephalus-obesity-hypogonadism syndrome

Sengers-Hamel-Otten syndrome

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Eisenmenger syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Imperforate oropharynx-costovertebral anomalies syndrome

Seghers syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome