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Intellectual "disability," autosomal dominant 13
- ... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
- ... most commonly passed down through families as an autosomal dominant trait. This means you develop the syndrome if ... nervous system and lead to: Eye problems Deafness Intellectual disability Seizures Tumors of the brain The condition also ...
- ... Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience ... disorder. CUL3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... halves of the brain (the corpus callosum), and intellectual disability.There are at least three types of frontonasal ... frontonasal dysplasia, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.Some people with GEFS+ have seizure disorders of ... SCN1B SCN2A STX1B GEFS+ is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle ... 16 16p12.2 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted ...
- ... progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech ... understood. EFTUD2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A loss of the MSX1 gene ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 Mar;85(3): ...
- ... of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced ... been identified. FGFR3 Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered ...
