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Results 31 - 40 of 199 for Absent
  1. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 
    ... coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. ... the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic ...
    https://medlineplus.gov/...odermal-defects-cleft-lip-palate-syndrome - Genetics
  2. Cyclic vomiting syndrome 
    ... 12 times per year. Between attacks, vomiting is absent, and nausea is either absent or much reduced. However, many affected people experience ...
    https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome - Genetics
  3. Spastic paraplegia type 49 
    ... general population. Affected individuals also have abnormal or absent reflexes (areflexia).Because of the nervous system abnormalities ... type 49 likely result in an abnormal or absent TECPR2 protein. Alteration or loss of this protein ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  4. Dandy-Walker malformation 
    ... central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. ... Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  5. Nonsyndromic holoprosencephaly 
    ... The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).Some individuals with nonsyndromic holoprosencephaly have a ... of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  6. Congenital diaphragmatic hernia 
    ... in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal ... or those in which the diaphragm muscle is absent with only a thin membrane in its place, ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  7. Chromosome 1 
    ... 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by ... autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb; ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  8. Chromosome 22 
    ... syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. Additional genes in the ... of effects. Intellectual disability, delayed development, delayed or absent speech, distinctive facial features, and behavioral problems are ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  9. PROK2 gene 
    ... s sense of smell will be impaired or absent. Misplacement or premature loss of GnRH-producing neurons ... development and causes puberty to be delayed or absent.Because the features and severity of Kallmann syndrome ...
    https://medlineplus.gov/genetics/gene/prok2 - Genetics
  10. PROKR2 gene 
    ... s sense of smell will be impaired or absent. Misplacement or premature loss of GnRH-producing neurons ... development and causes puberty to be delayed or absent.Because the features and severity of Kallmann syndrome ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
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