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Results 1 - 10 of 31 for Mental "retardation," autosomal dominant 29
  1. SETBP1 haploinsufficiency disorder 
    ... no history of the disorder in their family. Mental retardation, autosomal dominant 29 MRD29 SETBP1 disorder SETBP1 LoF syndrome SETBP1 loss ... disorder SETBP1-related intellectual disability ... Intellectual developmental disorder, autosomal dominant 29 National Organization ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. GRIN2B-related neurodevelopmental disorder 
    ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  3. Osteopetrosis 
    ... Citation on PubMed Meira T, Soares-Fernandes JP. Autosomal Dominant Osteopetrosis. N Engl J Med. 2022 Sep 29;387(13):e27. doi: 10.1056/NEJMicm2202055. Epub ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  4. 2q37 deletion syndrome 
    ... from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the altered ... retardation syndrome Chromosome 2q37 deletion syndrome (disorder) Deletion 2q37 ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  5. Opitz G/BBB syndrome 
    ... syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are ... that this condition is underdiagnosed.The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  6. Retinoblastoma 
    ... RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
  7. Cornelia de Lange syndrome 
    ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  8. Sotos syndrome 
    ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  9. MED13L syndrome 
    ... syndrome. MED13L MED13L syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ... 10.1002/ajmg.a.38168. Epub 2017 Mar 29. Citation on PubMed
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  10. Koolen-de Vries syndrome 
    ... 17 Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one ... 31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Citation on PubMed
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
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