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Results 61 - 70 of 75 for Autosomal anomaly
  1. Keratoderma with woolly hair 
    ... S. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  2. Hennekam syndrome 
    ... the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button ( ... CCBE1 FAT4 This condition is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  3. Fraser syndrome 
    ... of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. ... FREM2 GRIP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  4. Smith-Lemli-Opitz syndrome 
    ... RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  5. Branchio-oculo-facial syndrome 
    ... face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ... Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  6. Koolen-de Vries syndrome 
    ... or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected ... 17 Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  7. Potocki-Shaffer syndrome 
    ... region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13;91( ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  8. Capillary malformation-arteriovenous malformation syndrome 
    ... Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008 ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  9. Enlarged parietal foramina 
    ... parietal foramina: association with cerebral venous and cortical anomalies. Neurology. 2000 Mar 14;54(5):1175-8. ...
    https://medlineplus.gov/.../condition/enlarged-parietal-foramina - Genetics
  10. Mowat-Wilson syndrome 
    ... Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
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