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Results 1 - 10 of 10 for better syndrome type 4
  1. Wolfram syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  2. STXBP1 encephalopathy 
    STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  3. Noonan syndrome 
    ... Registry: Noonan syndrome 3 Genetic Testing Registry: Noonan syndrome 4 Genetic Testing Registry: Noonan syndrome 5 Genetic Testing ... SYNDROME 1; NS1 NOONAN SYNDROME 2; NS2 NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; NS3 NOONAN SYNDROME 5; ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. Barth syndrome 
    ... type II Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 Barth syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  5. GHR gene 
    ... of insulin is a major risk factor for type 2 diabetes. People with Laron syndrome have the opposite situation, an increased sensitivity to ...
    https://medlineplus.gov/genetics/gene/ghr - Genetics
  6. Congenital central hypoventilation syndrome 
    ... K. Novel PHOX2B mutations in congenital central hypoventilation syndrome. Pediatr Int. 2019 Apr;61(4):393-396. doi: 10.1111/ped.13812. Epub 2019 Apr 17. Citation on PubMed Todd ES, Weinberg SM, Berry-Kravis ... syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  7. Systemic lupus erythematosus 
    ... 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 ...
    https://medlineplus.gov/.../condition/systemic-lupus-erythematosus - Genetics
  8. 48,XXYY syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  9. PRNP gene 
    ... Met or Met/Val at position 129 performed better at long-term memory tasks than those who had ... Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) PRIP PrP PrP27-30 PrP33- ...
    https://medlineplus.gov/genetics/gene/prnp - Genetics
  10. CDKL5 deficiency disorder 
    ... in CDKL5 deficiency disorder usually do not get better with treatment.Development is impaired in children with ... infancy: clinical and electroencephalographic long-term course in 4 patients. J Child Neurol. 2013 Jul;28(7): ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics