... area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals.The ... cells. PSMB8 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ...

... common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur ... types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, ...

... may develop neurological problems such as developmental delays, intellectual disabilities, seizures, and difficulty coordinating movements (ataxia). Abnormal deposits ...

... may include heart and blood vessel (cardiovascular) problems, intellectual disabilities, behavioral changes, and seizures. TRMA is rare, though ... TRMA. SLC19A2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...