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Results 1 - 10 of 80 for Miller syndrome
  1. Miller syndrome 
    Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity ... this disorder varies among affected individuals.Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  2. Miller-Dieker syndrome 
    Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development called lissencephaly. Normally, the surface ... with fewer folds and grooves. In people with Miller-Dieker syndrome, lissencephaly is typically associated with severe intellectual disabilities, ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  3. DHODH gene 
    ... the DHODH gene have been found to cause Miller syndrome. Most of these mutations change single protein building ... mutations lead to the signs and symptoms of Miller syndrome. More About This Health Condition DHOdehase dihydroorotate dehydrogenase ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  4. YWHAE gene 
    ... the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous genes, including the YWHAE gene. Miller-Dieker syndrome is characterized by intellectual disabilities and developmental delays ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  5. Chromosome 17 
    ... de Vries syndrome. More About This Health Condition Miller-Dieker syndrome is caused by a deletion of genetic material ... of the short (p) arm of chromosome 17. Miller-Dieker syndrome is a condition characterized by intellectual disabilities and ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  6. PAFAH1B1 gene 
    ... the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous genes, including the PAFAH1B1 gene. Signs and symptoms of Miller-Dieker syndrome include lissencephaly, intellectual disabilities, seizures, and distinctive facial ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  7. Guillain-Barré syndrome 
    ... and can have abnormal or absent reflexes (areflexia).Miller Fisher syndrome, another type of Guillain-Barré syndrome, involves cranial ... to various areas of the head and neck. Miller Fisher syndrome is characterized by three features: weakness or paralysis ...
    https://medlineplus.gov/genetics/condition/guillain-barre-syndrome - Genetics
  8. Alagille syndrome 
    ... Hepatofacioneurocardiovertebral syndrome Paucity of interlobular bile ducts Watson-Miller syndrome Genetic Testing Registry: Alagille syndrome due to a ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  9. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... j.fertnstert.2013.11.011. Citation on PubMed Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
  10. Prader-Willi syndrome 
    ... article on PubMed Central Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012 Jan;14(1):10-26. ... 2007 May 23. Citation on PubMed Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. 1998 Oct 6 [updated 2024 Dec 5]. In: ...
    https://medlineplus.gov/genetics/condition/prader-willi-syndrome - Genetics
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