Results 1 -
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146
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Intellectual "disability," autosomal dominant 2
- ... 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. ...
- ... Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems ... each cell is sufficient to cause the disorder. People inherit two copies of their genes, one from their mother ...
- ... PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.In at least ...
- ... extra copy of the RAI1 gene leads to intellectual disability and the other signs and symptoms of this condition. Extra ... This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
- ... autosomal dominant 43 MRD43 Genetic Testing ... Schule R, Buettner R. Activation of somatostatin receptor II expression by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol. 1999 ...
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 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. ...
- ... 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 ...
