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Results 11 - 20 of 32 for parents Weber syndrome
  1. Capillary malformation-arteriovenous malformation syndrome 
    ... those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  2. Arteriovenous Malformations (National Library of Medicine)  
    What are arteriovenous malformations (AVMs)? Arteriovenous malformations (AVMs) are defects in your vascular system. Your vascular system is your body's ...
    https://medlineplus.gov/arteriovenousmalformations.html - Health Topics
  3. CLOVES Syndrome (For Parents) (Nemours Foundation)  
    ... Proteus syndrome, hemihypertrophy, Macrocephaly-Capillary Malformation, Klippel-Trénaunay-Weber
    https://kidshealth.org/en/parents/cloves-syndrome.html - External Health Links
  4. Genetic epilepsy with febrile seizures plus 
    ... affected person inherits the mutation from one affected parent. Other cases result from new (de novo) mutations ... mutations, although it can be inherited from a parent who has a milder form of GEFS+. Other ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  5. Kleefstra syndrome 
    ... 9 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, ... the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion. Mosaic means ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  6. 15q13.3 microdeletion 
    ... 3 microdeletion inherit the chromosomal change from a parent. In the remaining cases, 15q13.3 microdeletion occurs in people whose parents do not carry the chromosomal change. In these ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
  7. Congenital anomalies of kidney and urinary tract 
    ... the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition ... eggs or sperm) in an affected individual's parent or in early embryonic development may underlie the ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  8. Alport syndrome 
    ... is inherited in an autosomal recessive pattern. The parents of an individual with the autosomal recessive form ... Torra R, Friede T, Lange K, Muller GA, Weber M. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  9. Primary macronodular adrenal hyperplasia 
    ... described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a ... Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, Konig K, Arlt W, ... concurrent inactivating germline and somatic mutations are associated ...
    https://medlineplus.gov/.../primary-macronodular-adrenal-hyperplasia - Genetics
  10. ARMC5 gene 
    ... described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a ... Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, Konig K, Arlt W, ... concurrent inactivating germline and somatic mutations are associated ...
    https://medlineplus.gov/genetics/gene/armc5 - Genetics
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