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Results 1 - 10 of 302 for absence syndrome
  1. Absent pulmonary valve 
    Absent pulmonary valve is a rare defect in which the pulmonary valve is either missing or poorly formed. Oxygen-poor blood flows through ...
    https://medlineplus.gov/ency/article/007314.htm - Medical Encyclopedia
  2. TREX1 gene 
    ... the eye (the retina).As in Aicardi-Goutières syndrome, absence or impaired function of the 3-prime repair ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. Childhood absence epilepsy 
    ... With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. JAMA Neurol. 2016 Aug 1;73(8):1009-16. doi: 10.1001/jamaneurol.2016.0449. Citation on PubMed or Free article on PubMed Central ... of idiopathic absence epilepsies. Seizure. 2012 Mar;21(2):79-86. ...
    https://medlineplus.gov/.../condition/childhood-absence-epilepsy - Genetics
  4. UV-sensitive syndrome 
    ... A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV- ...
    https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome - Genetics
  5. ERCC6 gene 
    ... A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV- ...
    https://medlineplus.gov/genetics/gene/ercc6 - Genetics
  6. Acrocallosal syndrome 
    ... their family. ACLS Hallux duplication, postaxial polydactyly, and absence of corpus callosum Schinzel acrocallosal syndrome Schinzel syndrome 1 Genetic Testing Registry: Acrocallosal syndrome ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  7. Thrombocytopenia-absent radius syndrome 
    Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  8. Genetic epilepsy with febrile seizures plus 
    ... early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  9. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... although the gene involved is usually unknown. Congenital absence of the uterus and vagina (CAUV) Genital renal ear syndrome (GRES) MRKH syndrome Mullerian agenesis Mullerian aplasia Mullerian ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
  10. Adams-Oliver syndrome 
    ... with this condition commonly have scarring and an absence of hair growth in the affected area.Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
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