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Results 1 - 10 of 163 for Phenotypic abnormality
  1. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  2. Lymphedema-distichiasis syndrome 
    ... S, Mortimer P, Murday VA. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with ...
    https://medlineplus.gov/.../lymphedema-distichiasis-syndrome - Genetics
  3. FOXC2 gene 
    ... S, Mortimer P, Murday VA. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with ...
    https://medlineplus.gov/genetics/gene/foxc2 - Genetics
  4. Laron syndrome 
    ... Savage MO. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev. ...
    https://medlineplus.gov/genetics/condition/laron-syndrome - Genetics
  5. White-Sutton syndrome 
    ... Dallapiccola B, Digilio MC, Tartaglia M. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
  6. POGZ gene 
    ... Dallapiccola B, Digilio MC, Tartaglia M. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/pogz - Genetics
  7. FBN1 gene 
    ... RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 1989 Jul 28;262(4):523- ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  8. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Citation on PubMed
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  9. Distal 18q deletion syndrome 
    ... high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007 ... of growth abnormalities in children with 18q deletions. J Clin Endocrinol ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  10. X-linked chondrodysplasia punctata 2 
    ... JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with ... Citation on PubMed
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
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