Results 11 -
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126
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Intellectual "disability," autosomal dominant 3
- ... 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 ...
- ... Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 imprinting syndrome. KCNK9 KCNK9 imprinting syndrome follows an autosomal dominant pattern of inheritance, which means one copy of ...
- ... 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 ...
- ... 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 ...
- ... 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- ...
- ... known as Pitt-Hopkins syndrome, such as severe intellectual disability and breathing problems, in addition to other features of distal 18q ... Distal 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted ...
- ... 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 ...
