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Results 1 - 5 of 5 for absent
  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; ...
  2. ... 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 ...
  3. ... phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med ...
  4. ... is partially missing or rearranged rather than completely absent.Some people with Turner syndrome have a chromosomal ...
  5. ... typically have severe intellectual disability, a thin or absent corpus callosum, weak muscle tone (hypotonia), abnormal curvature ...