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Results 1 - 10 of 21 for Abnormal relationship
  1. Crohn's disease 
    ... factors are probably related, directly or indirectly, to abnormal inflammation. However, the exact relationship between these factors and Crohn's disease risk ...
    https://medlineplus.gov/genetics/condition/crohns-disease - Genetics
  2. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 
    ... pain seen in people with CARASIL, although the relationship between abnormal TGF-β signaling and these features is less ...
    https://medlineplus.gov/...cortical-infarcts-and-leukoencephalopathy - Genetics
  3. Infantile neuroaxonal dystrophy 
    ... neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  4. Biotin-thiamine-responsive basal ganglia disease 
    ... be seen, including in the basal ganglia. The relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown.It is unclear how ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  5. Ollier disease 
    ... the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
  6. Maffucci syndrome 
    ... the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  7. Weaver syndrome 
    ... camptodactyly). Other features of this disorder can include abnormal curvature of ... between these brain abnormalities and the intellectual disability ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  8. Benign essential blepharospasm 
    ... the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and ...
    https://medlineplus.gov/.../condition/benign-essential-blepharospasm - Genetics
  9. CDKL5 deficiency disorder 
    ... Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012 Jul;158A( ... Juarez-Colunga E, Benke TA. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  10. Immune thrombocytopenia 
    ... such as an upper respiratory infection, but the relationship between the infection and immune thrombocytopenia is not ... blood.In some people with immune thrombocytopenia, the abnormal immune reactions may coincide with an infection by ...
    https://medlineplus.gov/genetics/condition/immune-thrombocytopenia - Genetics
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