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Results 41 - 50 of 75 for Autosomal anomaly
  1. Dilated cardiomyopathy with ataxia syndrome 
    ... and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr ... recessive dilated cardiomyopathic syndrome due to defective importation ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  2. MED13L syndrome 
    ... of MED13L syndrome. Asadollahi-Rauch syndrome ASRAS Cardiac anomalies-developmental delay-facial dysmorphism syndrome Developmental delay-facial ... related intellectual disability MRFACD Genetic Testing ... anomalies - developmental delay - facial dysmorphism syndrome Developmental delay-facial ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  3. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES; MURCS PubMed Fontana L, Gentilin B, Fedele L, ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
  4. Arrhythmogenic right ventricular cardiomyopathy 
    ... Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy ... to cause the disorder.Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies ...
    https://medlineplus.gov/...hmogenic-right-ventricular-cardiomyopathy - Genetics
  5. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
    ... eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including ...
    https://medlineplus.gov/...athy-aneurysms-and-muscle-cramps-syndrome - Genetics
  6. LBR gene 
    ... the LBR gene can also cause Pelger-Huët anomaly, a condition that affects the shape of the ... nuclei of granulocytes in people with Pelger-Huët anomaly have fewer segments than normal (they are hypolobulated). ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  7. COL4A1-related brain small-vessel disease 
    ... disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored ...
    https://medlineplus.gov/...col4a1-related-brain-small-vessel-disease - Genetics
  8. MYH9-related disorder 
    ... thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All ... condition. MYH9 This condition is inherited in an autosomal dominant pattern, which means one copy of the ...
    https://medlineplus.gov/genetics/condition/myh9-related-disorder - Genetics
  9. Klippel-Feil syndrome 
    ... Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. ... MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013 Jan 10;92( ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  10. WNT4 gene 
    ... Health Condition MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract More About This ... as a major gene in Rokitansky-Kuster-Hauser anomaly. Am J Med Genet A. 2005 Aug 15; ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
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