Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

153 matching diseasesClear search ×

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

ORPHA:2958

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA:85319

X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

ORPHA:480907

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ORPHA:85329

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome

ORPHA:500150