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Results 1 - 10 of 11 for Intellectual "disability," autosomal dominant 57
  1. HIVEP2-related intellectual disability 
    ... retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal dominant 43 Intellectual developmental disorder, autosomal dominant 43 National ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  2. MBD5-associated neurodevelopmental disorder 
    ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - Genetics
  3. 15q13.3 microdeletion 
    ... 15 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.In about 75 percent ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
  4. SCN8A-related epilepsy with encephalopathy 
    ... is unknown how SCN8A gene mutations lead to intellectual disability, movement problems, and the other ... This condition follows an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  5. STXBP1 encephalopathy 
    ... for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338. Epub 2016 Feb 25. Citation on PubMed
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  6. GLUT1 deficiency syndrome 
    ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, ... but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  7. Familial focal epilepsy with variable foci 
    ... DEPDC5 NPRL2 NPRL3 FFEVF is inherited in an autosomal dominant pattern, which means one copy of an altered ... Citation on PubMed Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  8. Baraitser-Winter syndrome 
    ... These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.Other features of Baraitser- ... syndrome. ACTB ACTG1 This condition is described as autosomal dominant, which means one copy of the altered gene ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  9. Alexander disease 
    ... disease. GFAP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/alexander-disease - 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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