<unk>  is a heterogeneous disorder, and can be inherited in either an autosomal dominant or recessive manner. Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome, but two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and<unk> . However atypical<unk>  is associated mutation with PAX6 gene. To elucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed. This condition is caused by mutations in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. This gene is located on the short arm of chromosome 3 (3p26.1). Mutations in this gene have also been associated with spinocerebellar ataxia type 15 and 29.
Gillespie syndrome
Ogden syndrome
Cowden syndrome
Sugarman syndrome
Prune belly syndrome
Werner syndrome
Fabry disease
Sanjad-Sakati syndrome