Results 1 -
10
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12
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better "syndrome," type 3
- ... type 2 MGA type II Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 Barth syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... to diabetes mellitus or neurological problems. However, with better diagnosis and management, life expectancy has risen. The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. ...
- ... Registry: Noonan syndrome 2 Genetic Testing Registry: Noonan syndrome 3 Genetic Testing Registry: Noonan syndrome 4 Genetic Testing ... SYNDROME 2; NS2 NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; NS3 NOONAN SYNDROME 5; NS5 NOONAN SYNDROME 8; ...
- ... Yen S, Kun SS, Keens TG, Perez IA. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation. ...
- ... of insulin is a major risk factor for type 2 diabetes. People with Laron syndrome have the opposite situation, an increased sensitivity to ...
- ... CDKL5 deficiency disorder usually begin within the first 3 months of life, and can appear as early as the first week after birth. The types of seizures change with age, and may follow ...
- ... and multiple cavities. Additionally, individuals with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, congenital heart defects, and an ...
- ... symptoms of the condition. Disseminated lupus erythematosus LE syndrome Libman-Sacks disease Lupus SLE Genetic Testing Registry: Autosomal systemic lupus erythematosus type 16 Genetic Testing Registry: Systemic lupus erythematosus, susceptibility ...
- ... AL, Landman G, Duprat Neto JP. Atypical mole syndrome and dysplastic nevi: identification of populations at risk for developing melanoma - review article. Clinics (Sao Paulo). 2011;66(3):493-9. PubMed: 21552679 . Free full-text available ...
- STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...