... of life. People with Salla disease typically have intellectual disabilities and developmental delays, which can make it difficult ... protein. SLC17A5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... 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 ...

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

... cells. COG5 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 ...

... NAGLU SGSH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...

... types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...