Results 1 -
7
of
7
for
Intellectual "disability," autosomal dominant 56
- ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
- ... condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first ... birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have ...
- ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
- ... small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication ...
- ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
- ... disease. GFAP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... complex. TSC1 TSC2 Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of ...
