... features of Bannayan-Riley-Ruvalcaba syndrome, such as macrocephaly, developmental delay, and muscle and skeletal ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... growth and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and ... syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ...

... disability. PPP2R5D This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... no history of the disorder in their family. Autosomal dominant mental retardation 35 Genetic Testing Registry: Congenital stationary ...

... syndrome. ABCC9 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am ...

... Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are ... the disorder in their family.Unlike most other autosomal dominant conditions, in which one altered copy of a ...

... Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15( ... SE. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- ...

... disorder. CUL3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... D-2-HGA type II is considered an autosomal dominant disorder because one copy of the altered gene ...

... unknown. TGFB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from ...