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Results 1 - 10 of 204 for Abnormality of muscle size
  1. Stormorken syndrome 
    ... the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  2. GRIN2B-related neurodevelopmental disorder 
    ... of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired vision, and involuntary muscle movements. The prevalence of GRIN2B-related neurodevelopmental disorder ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  3. Isolated hyperCKemia 
    ... other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not ...
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia - Genetics
  4. Triple A syndrome 
    ... People with this condition may have other neurological abnormalities, such as ... muscle weakness, movement problems, and nerve abnormalities in their ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  5. Chromosome 8 
    ... also have heart defects, underdeveloped kidneys, or eye abnormalities. Older individuals usually develop abnormal muscle stiffness (spasticity). The signs and symptoms of inversion duplication 8p tend to depend on the size and location of the chromosome segment involved. For ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  6. Kaufman oculocerebrofacial syndrome 
    ... Kaufman oculocerebrofacial syndrome have an unusually small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  7. Dihydropyrimidinase deficiency 
    ... be diagnosed only by laboratory testing.The neurological abnormalities that ... size (microcephaly) and autistic behaviors that affect communication and ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  8. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... called subcortical cysts. These cysts can grow in size and number.The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  9. ALG12-congenital disorder of glycosylation 
    ... often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  10. Multiple pterygium syndrome 
    ... brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity ( ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
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