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Results 1 - 9 of 9 for Mucolipidosis
  1. Mucolipidosis III gamma 
    Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.Individuals ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma - Genetics
  2. Mucolipidosis II alpha/beta 
    Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  3. Mucolipidosis type IV 
    Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  4. Mucolipidosis III alpha/beta 
    Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms ... 3 and worsen slowly over time.Individuals with mucolipidosis III alpha/beta grow slowly and have short ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  5. Sialidosis 
    ... of the condition. Cherry red spot myoclonus syndrome Mucolipidosis I Mucolipidosis type I Myoclonus cherry red spot syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  6. MCOLN1 gene 
    ... the MCOLN1 gene have been found to cause mucolipidosis type IV. Most of these mutations result in ... MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. ...
    https://medlineplus.gov/genetics/gene/mcoln1 - Genetics
  7. GNPTAB gene 
    ... the GNPTAB gene have been found to cause mucolipidosis II alpha/beta. These mutations prevent the production ... cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. ...
    https://medlineplus.gov/genetics/gene/gnptab - Genetics
  8. GNPTG gene 
    ... the GNPTG gene have been found to cause mucolipidosis III gamma. These mutations result in reduced the ... cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The ...
    https://medlineplus.gov/genetics/gene/gnptg - Genetics
  9. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... also called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV CLN5 disease , also called neuronal ceroid ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics