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"

3 matching diseasesClear search ×

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

ORPHA:329195

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

ORPHA:90350

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

ORPHA:371235