Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
L1 Syndrome

Also known as: HSAS, aqueductal stenosis, X-linked L1 disease L1 spectrum MASA syndrome SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked corpus callosum agenesis X-linked hydrocephalus with stenosis of the aqueduct of sylvius

NORD Rare Disease Report
Laband Syndrome

Also known as: Gingival Fibromatosis, Abnormal Fingers, Nails, Nose, Ear, Splenomegaly Zimmermann-Laband Syndrome ZLS

NORD Rare Disease Report
LADD syndrome

Also known as: lacrimo-auriculo-dento-digital syndrome Levy-Hollister syndrome

NORD Rare Disease Report
Lafora Disease

Also known as: epilepsy progressive myoclonic 2 Lafora body disorder myoclonic epilepsy of Lafora Lafora body disease Lafora progressive myoclonic epilepsy progressive myoclonic epilepsy type 2 progressive myoclonus epilepsy, Lafora type

NORD Rare Disease Report
Lamellar Ichthyosis

Also known as: collodion baby congenital lamellar ichthyosis LI

NORD Rare Disease Report
Landau Kleffner Syndrome

Also known as: acquired aphasia with convulsive disorder acquired epileptiform aphasia LKS developmental/epileptic encephalopathy with spike wave activation on sleep (DEE-SWAS)

NORD Rare Disease Report
Langerhans Cell Histiocytosis

Also known as: LCH histiocytosis X (formerly) eosinophilic granuloma (formerly) Letterer-Siwe disease (formerly) Hand-Schüller-Christian syndrome (formerly)

NORD Rare Disease Report
Laryngeal Dystonia

Also known as: LD SD spasmodic dysphonia spastic dysphonia

NORD Rare Disease Report
Laryngotracheoesophageal Cleft

Also known as: laryngeal cleft laryngotracheal cleft (LC) LTEC laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal diastema posterior laryngeal cleft (PLC)

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