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"

7 matching diseasesClear search ×

Atelencephaly

Atelencephalic microcephaly

ORPHA:566852

Amish lethal microcephaly

ORPHA:99742

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

ORPHA:566847

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

ORPHA:2512

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Microlissencephaly

ORPHA:1083

Midline interhemispheric variant of holoprosencephaly

MIH · MIH type HPE

ORPHA:93926