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Results 1 - 10 of 17 for Intellectual "disability," autosomal dominant 45
  1. SETBP1 haploinsufficiency disorder 
    ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. Epilepsy-aphasia spectrum 
    ... seizures (epilepsy), and some have mild to severe intellectual disability. The ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  3. 17q12 duplication 
    ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  4. Familial focal epilepsy with variable foci 
    ... Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  5. Pitt-Hopkins syndrome 
    ... Citation on PubMed Sweatt JD. Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med. 2013 May 3;45(5):e21. doi: 10.1038/emm.2013.32. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  6. GCH1 gene 
    ... Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi: 10.1136/jnnp.2008.155861. Epub 2009 ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. Koolen-de Vries syndrome 
    ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  8. 22q11.2 deletion syndrome 
    ... growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty ... the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  9. KIF21A gene 
    ... ptosis). In addition, people with CFEOM3 can have intellectual disability or other neurological problems.Each of the known ... FEOM FEOM1 Fibrosis of extraocular muscles, congenital, 1, autosomal dominant fibrosis of the extraocular muscles, congenital, 1 FLJ20052 ...
    https://medlineplus.gov/genetics/gene/kif21a - Genetics
  10. Kabuki syndrome 
    ... may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually ... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
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