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Intellectual "disability," autosomal dominant 11
- ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
- ... disrupts normal brain development and leads to seizures, intellectual disability, and other features of encephalopathy that occur in this condition. KCNB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... multiple benign (noncancerous) bone tumors called osteochondromas and intellectual disability. These additional features are associated with the loss of genes near TRPS1. TRPS1 TRPS I is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... seizures (epilepsy), and some have mild to severe intellectual disability. The ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
- ... 15 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.In about 75 percent ...
- ... brain, neurons, and possibly other tissues, leading to intellectual disability and other signs and symptoms of Coffin-Siris syndrome. ... Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of ...
- ... autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
- ... its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
