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Results 1 - 10 of 34 for "muscle," "absence," congenital
  1. Congenital afibrinogenemia 
    ... can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some ... can have abnormally heavy menstrual bleeding (menorrhagia). ...
    https://medlineplus.gov/.../condition/congenital-afibrinogenemia - Genetics
  2. Congenital generalized lipodystrophy 
    ... arrhythmia) that can cause sudden death.People with congenital generalized lipodystrophy have a distinctive physical appearance. They appear very muscular because they have an almost complete absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose tissue under the ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  3. CAVIN1 gene 
    ... rare condition is characterized by an almost total absence of adipose ... muscle weakness, delayed development, joint abnormalities, a narrowing of ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  4. Congenital diaphragmatic hernia 
    Congenital diaphragmatic hernia is a ... formed diaphragm results in an abnormal opening (hernia) that allows the stomach ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  5. ACTA1 gene 
    ... cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul ... Romero NB, Laing NG. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol. 2007 Feb;61(2):175- ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  6. LAMA2-related muscular dystrophy 
    ... It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular ... M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 Oct;52(4):547-53. doi: ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  7. Nemaline myopathy 
    ... Romero NB, Laing NG. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol. 2007 Feb;61(2):175- ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  8. Abdominal wall defect 
    ... usually improves in a few months and intestinal muscle contractions normalize. Rarely, children with gastroschisis have a narrowing or absence of a portion of intestine (intestinal atresia) or ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  9. GBE1 gene 
    ... Janecke AR, Vorgerd M, Weis J, Schroder JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  10. Adams-Oliver syndrome 
    ... not show signs and symptoms of the condition. Absence defect of limbs, scalp, and skull AOS Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies Genetic ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
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