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Intellectual "disability," autosomal dominant 58
- ... 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 ...
- ... 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 ...
- ... causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat ... hyperhidrosis).Most individuals with TRPS II have mild intellectual disability. TRPS II is a rare condition; its prevalence ...
- ... limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the ... the disorder that have an inheritance pattern called autosomal dominant. Limb-girdle muscular dystrophy type 2 includes forms ...
- ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 ...
- ... stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later ... month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
- ... of the condition.Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the ...
- ... 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 ...
