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Intellectual "disability," autosomal dominant 9
- ... 9 9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome.A 9q22. ...
- ... intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability ... V, Wangler M, Gibbs R, Murdock D. Xia-Gibbs Syndrome. 2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... autosomal dominant 5 SYNGAP1-related non-syndromic intellectual disability ... cortical circuit assembly. Biol Psychiatry. 2015 May 1;77(9):805-15. doi: 10.1016/j.biopsych.2014. ...
- ... retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal dominant 43 HIVEP2-related intellectual disability Disease InfoSearch National ...
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 SETBP1 disorder Disease InfoSearch National Organization for ...
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 Disease InfoSearch National Organization for Rare Disorders ( ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 Disease InfoSearch National Organization for Rare Disorders ( ...
- ... 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 ...
- ... no history of the disorder in their family. Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1- ...
- ... family. Intellectual developmental disorder 62 intellectual developmental disorder, autosomal dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome Genetic Testing Registry: ...
