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Results 1 - 10 of 153 for Intellectual "disability," autosomal dominant 10
  1. DLG4-related synaptopathy 
    ... dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome ... Partners. Int J Mol Sci. 2022 Apr 15;23(8):4390. doi: 10.3390/ijms23084390. Citation on PubMed Rodriguez-Palmero A, ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  2. PACS1 syndrome 
    ... no history of the disorder in their family. Autosomal dominant ... Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Apr;179(4):522-524. doi: 10.1002/ajmg.a.61058. Epub 2019 Jan 28. ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  3. SYNGAP1-related intellectual disability 
    ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. Xia-Gibbs syndrome 
    ... intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS Genetic Testing Registry: AHDC1-related intellectual ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  9. PPP2R5D-related intellectual disability 
    ... disability and other neurological features of PPP2R5D-related intellectual disability. PPP2R5D This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  10. ADNP syndrome 
    ... autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der Aa syndrome HVDAS Mental retardation, autosomal dominant 28 MRD28 Genetic Testing Registry: ADNP-related multiple ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
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