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Intellectual "disability," autosomal dominant 8
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of ... (also called mutations) in at least eight genes cause the various types of osteopetrosis. Variants ...
- ... dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome ... and Its Interaction Partners. Int J Mol Sci. 2022 Apr 15;23(8):4390. doi: 10.3390/ijms23084390. Citation on PubMed ...
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
- ... retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal dominant 43 Intellectual developmental disorder, autosomal dominant 43 National ...
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... 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 ...
- ... sperm) or in early embryonic development. Mental retardation, autosomal dominant 37 MRD37 WHSUS Genetic Testing Registry: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome National Organization for ...
- ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
- ... seizures (epilepsy), and some have mild to severe intellectual disability. The ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
