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"

20 matching diseasesClear search ×

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

ORPHA:163708

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Late infantile CACH syndrome

ORPHA:157716

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

ORPHA:699734

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

ORPHA:700492

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

ORPHA:699761

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

ORPHA:699802

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

ORPHA:700467

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

ORPHA:700484

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

ORPHA:309256

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Giant infantile hemangioma

ORPHA:210592

OBSOLETE: Infantile axonal neuropathy

ORPHA:2679

OBSOLETE: Infantile epilepsy syndrome

ORPHA:98258

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Infantile non-syndromic cataract

ORPHA:217052

OBSOLETE: Infantile thalamic degeneration

ORPHA:1577

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680