Spinocerebellar ataxia type-13 — (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with… … Wikipedia
Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or … Wikipedia
Neuromyotonia — Classification and external resources ICD 10 G71.1 ICD 9 333.90 … Wikipedia
Cystic fibrosis — Classification and external resources A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest ICD 10 E … Wikipedia
Osteopetrosis — (Malignant) Classification and external resources X ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers Schonberg disease). Note the dense bones. ICD … Wikipedia
Arrhythmogenic right ventricular dysplasia — Classification and external resources Photomicrograph of an ARVC heart. ICD 10 I … Wikipedia
Congenital insensitivity to pain — Classification and external resources OMIM 243000 147430 DiseasesDB 31214 … Wikipedia
Malignant hyperthermia — Classification and external resources Abnormalities in the Ryanodine receptor 1 gene are commonly detected in malignant hyperthermia ICD 10 T … Wikipedia
Erythromelalgia — Classification and external resources Erythromelalgia in a 77 year old woman with longstanding polycythemia vera. ICD 10 I … Wikipedia
Jervell and Lange-Nielsen syndrome — Classification and external resources ICD 9 426.82 OMIM 220400 DiseasesDB … Wikipedia