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Results 31 - 40 of 46 for "Microcephaly," "seizures," developmental delay
  1. Aicardi-Goutières syndrome 
    ... and sterile pyrexias. Over time, affected individuals show developmental delays and regression. They may also have spasticity and hypotonia, and the growth of the brain and head may slow leading to microcephaly. The health and developmental problems in people with ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. Wolf-Hirschhorn syndrome 
    ... Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. The deletion of the LETM1 gene and other nearby genes (including CPLX1) may cause seizures or other abnormal electrical activity in the brain. ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics
  3. Phosphoglycerate dehydrogenase deficiency 
    ... is getting smaller as the body grows (progressive microcephaly). Poor brain ... seizures in phosphoglycerate dehydrogenase deficiency can vary in type. ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  4. Renpenning syndrome 
    ... a disorder that almost exclusively affects males, causing developmental ... (microcephaly). Facial features characteristic of this disorder include a ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  5. Kleefstra syndrome 
    ... the body. Characteristic features of Kleefstra syndrome include ... (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  6. Desmosterolosis 
    ... Sivan S, Birk OS. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/desmosterolosis - Genetics
  7. UBE3A gene 
    ... Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and ... microcephaly protein ASPM, localizes to centrosomes and regulates chromosome ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  8. 10q26 deletion syndrome 
    ... mild to moderate intellectual disability, growth problems, and developmental ... attention-deficit/hyperactivity disorder (ADHD), poor impulse control ( ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
  9. HIVEP2-related intellectual disability 
    ... autism spectrum disorder, which is a group of developmental disorders ... include seizures; recurrent ear infections; and eye disorders, such as ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  10. 1q21.1 microduplication 
    ... Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to ... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40( ...
    https://medlineplus.gov/genetics/condition/1q211-microduplication - Genetics
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