Rare Disease Library

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Genetic progeroid syndrome

H syndrome

Hyper-IgE syndrome

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hypoplastic left heart syndrome

HLHS

Jung syndrome

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

X-linked dystonia-parkinsonism

DYT3 · Lubag

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome