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"

10 matching diseasesClear search ×

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Walsh type

ORPHA:329228

Alazami syndrome

Microcephalic primordial dwarfism, Alazami type

ORPHA:319671

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

ORPHA:658595

Microcephalic osteodysplastic primordial dwarfism type II

MOPD type II · Majewski osteodysplastic primordial dwarfism type II

ORPHA:2637

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

ORPHA:2636

Microcephalic primordial dwarfism

ORPHA:324761

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675

Microcephalic primordial dwarfism, Montreal type

Bird-headed dwarfism, Montreal type

ORPHA:2617

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643