Results 1 -
10
of
142
for
Intellectual "disability," autosomal recessive 3
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... disability syndrome National ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... SYNDROME 1; WARBM1 WARBURG MICRO SYNDROME 3; WARBM3 WARBURG MICRO SYNDROME 2; WARBM2 WARBURG MICRO ...
- ... 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 ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
- ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
- ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... 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 gene, but ... Genetic ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically ... Genetic Testing Registry: Woodhouse-Sakati syndrome ...
