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Results 1 - 10 of 124 for Sex chromosome disorder of sex development
  1. 46,XX testicular difference of sex development 
    ... Swartz JM. Recent findings on the genetics of disorders of sex development. Curr ... located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
  2. 48,XXXY syndrome 
    ... is sometimes described as a variant of another sex chromosome disorder called ... sexual development and can be associated with learning disabilities and ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
  3. 49,XXXXY syndrome 
    ... is sometimes described as a variation of another sex chromosome disorder called ... the development of sexual characteristics that are typical for males ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  4. Klinefelter syndrome 
    ... Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  5. 5-alpha reductase deficiency 
    ... genetically male (with one X and one Y chromosome in each cell) will have the characteristic signs of 5-alpha reductase deficiency. ... disorder of sex development due to 5-alpha-reductase 2 deficiency National ...
    https://medlineplus.gov/.../condition/5-alpha-reductase-deficiency - Genetics
  6. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... 17,20-lyase deficiency may develop some secondary sex characteristics; ... sexual development lead to abnormalities of the external genitalia. The ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
  7. Focal dermal hypoplasia 
    ... X chromosome, which is one of the two sex chromosomes. In females (who have ... Early in embryonic development in females, one of the two X chromosomes ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
  8. Terminal osseous dysplasia 
    ... X chromosome, which is one of the two sex chromosomes. In females (who have ... early in development. Early in embryonic development in females, one of ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  9. CDKL5 deficiency disorder 
    ... CDKL5 or impairment of its function disrupts brain development, but it is unclear how these changes cause the specific ... is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  10. CASK-related intellectual disability 
    ... the FRMD7 gene, leading to problems with the development of the oculomotor neural network and resulting in abnormal eye ... the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In females, who have ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
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