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  2. CDKL5 deficiency disorder - Wikipedia

    en.wikipedia.org/wiki/CDKL5_deficiency_disorder

    This gene provides instructions for making a protein (cyclin-dependent kinase-like 5) that is essential for normal brain development and function. [4] The CDKL5 protein is widely expressed in the brain, predominantly in nerve cells ( neurons ), with roles in cell proliferation , neuronal migration , axonal outgrowth, dendritic morphogenesis ...

  3. Childhood dementia - Wikipedia

    en.wikipedia.org/wiki/Childhood_dementia

    The median life expectancy is around 9 years, and the average life expectancy is 16.3 years. [ 1 ] The causes of death are attributed to respiratory complications in the late stage of the disease (e.g. pneumonia ), neurological complications (e.g. drug resistant epilepsy ), and cardiac events.

  4. Maroteaux–Lamy syndrome - Wikipedia

    en.wikipedia.org/wiki/Maroteaux–Lamy_syndrome

    Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3 ] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).

  5. Map shows the average life expectancy for people in each state

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  6. Onychomadesis - Wikipedia

    en.wikipedia.org/wiki/Onychomadesis

    Onychomadesis has been linked to autoimmune diseases, [7] physical trauma, pharmacological side effects, and viral infections, [8] especially coxsackieviruses. [9] However, in certain cases, the cause remains unknown. Athletes, especially runners, may be more likely to experience toenail involvement. [10]

  7. L1 syndrome - Wikipedia

    en.wikipedia.org/wiki/L1_syndrome

    L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).

  8. Macrocephaly-capillary malformation - Wikipedia

    en.wikipedia.org/wiki/Macrocephaly-capillary...

    The brain can be affected in several ways in this syndrome. Some children are born with structural brain anomalies such as cortical dysplasia or polymicrogyria . While developmental delay is nearly universal in this syndrome it is variable in severity, with the majority having mild to moderate delays and a minority having severe cognitive ...

  9. Creutzfeldt–Jakob disease - Wikipedia

    en.wikipedia.org/wiki/Creutzfeldt–Jakob_disease

    Creutzfeldt–Jakob disease (CJD), also known as subacute spongiform encephalopathy or neurocognitive disorder due to prion disease, is a fatal neurodegenerative disease. [ 4 ] [ 1 ] Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. [ 4 ]

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