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Results 1 - 6 of 6 for Congenital heart defects skeletal malformations syndrome
  1. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). ... with CHOPS syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  2. FBN1 gene 
    ... microfibrils weaken connective tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  3. FKRP gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. FKTN gene 
    ... cause Walker-Warburg syndrome, a severe form of congenital muscular dystrophy that affects the development of the eyes, brain, and skeletal muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are often more severe than those seen in ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  5. PRKAG2 gene 
    ... very severe form of heart disease called lethal congenital glycogen storage ... These abnormalities lead to respiratory distress and heart failure early ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  6. LMNA gene 
    ... the signs and symptoms of Hutchinson-Gilford progeria syndrome. More About This Health ... characterized by skeletal muscle weakness and atrophy beginning very early in ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics