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Results 1 - 10 of 2,300 for lead syndrome 1
  1. FKBP10 gene 
    ... ankles, and elbows.The mutations that cause Bruck syndrome 1 lead to the production of little to no FKBP10 ... sparse and disorganized. How these changes in collagen lead to the signs and symptoms of osteogenesis imperfecta type XI and Bruck syndrome 1 is unclear. In addition, it is unknown whether ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  2. ATN1 gene 
    ... normally, though it is unclear how these changes lead to the specific features of CHEDDA syndrome. ATN1_HUMAN atrophin-1 B37 D12S755E dentatorubral-pallidoluysian atrophy protein DRPLA NOD ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  3. SALL4 gene 
    ... this SALL4 gene mutation disrupts early development and leads to the characteristic features of IVIC syndrome. dJ1112F19.1 DRRS HSAL4 MGC133050 sal (Drosophila)-like 4 sal- ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  4. Alport syndrome 
    ... back of the eye. These eye abnormalities seldom lead to vision loss. Alport syndrome occurs in approximately 1 in 50,000 newborns. Variants (also called mutations) ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  5. Weill-Marchesani syndrome 
    ... tissue. The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. Researchers believe that the unstable protein interferes with ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  6. PIK3CD gene 
    ... of lymphocytes, and accumulation of these cells can lead to enlarged lymph nodes (lymphadenopathy). Activated PI3K-delta syndrome type 1 is also associated with an increased risk of ...
    https://medlineplus.gov/genetics/gene/pik3cd - Genetics
  7. Tetra-amelia syndrome 
    ... impaired and normal limb formation is disrupted, which leads to the serious birth defects associated with tetra-amelia syndrome types 1 and 2.In some affected individuals, the cause ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  8. CLRN1 gene 
    ... is unclear how a missing or altered clarin 1 protein leads to the signs and symptoms of Usher syndrome type IIIA.Two particular CLRN1 gene mutations are ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  9. WNT3 gene 
    ... activity disrupts normal limb formation before birth and leads to the other serious birth defects associated with tetra-amelia syndrome type 1. More About This Health Condition INT4 Oncogene INT4 ...
    https://medlineplus.gov/genetics/gene/wnt3 - Genetics
  10. Trisomy 18 
    ... passed down through families. Instead, the problems that lead to this condition occur in either the sperm or the egg that forms the fetus.
    https://medlineplus.gov/ency/article/001661.htm - Medical Encyclopedia
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