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Intellectual "disability," autosomal dominant 5
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National Organization ...
- ... autosomal dominant 43 MRD43 Genetic Testing ... receptor II expression by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol. 1999 May;19(5):3736-47. doi: 10.1128/MCB.19.5. ...
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
- ... intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS Genetic Testing Registry: AHDC1-related intellectual ...
- ... 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: ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the ...
- ... particular, problems with brain development likely contribute to intellectual disability, delayed development, and other neurological problems in people with the condition. HNRNPK This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
