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"

6 matching diseasesClear search ×

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

ORPHA:352403

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

ORPHA:284271

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

ORPHA:2074

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

ORPHA:1186

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

ORPHA:642747

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185