Results 91 -
100
of
142
for
Intellectual "disability," autosomal recessive 6
- ... problems.Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), ... MTR MTRR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... have included short stature, speech and language delays, intellectual disabilities, behavioral abnormalities, abnormal muscle stiffness (spasticity), and seizures. ...
- ... have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone ( ... DPYD Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... children.In very rare cases, delayed development and intellectual disability have been reported in people with the features ... TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both ...
- ... children with this condition have delayed development and intellectual disability, and some have an unusually small head size ( ... Methylmalonic acidemia with homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med ...
- ... This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene ... Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and ... brain. GAMT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... deficiency. PHGDH 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 ...
- ... for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.The severity ... form of congenital hyperinsulinism is inherited in an autosomal recessive pattern, which means both copies of the gene ...
