<unk>  shows autosomal recessive inheritance patterns. The subjects studied for this disease included families which were highly consanguineous or inbred. Mutations of the KIAA1279 gene were determined as a possible driving mutation causing the syndrome, and researchers found that the coding errors were caused by homozygous nonsense mutations or other homozygous truncating mutations. The chromosomal location of the suspected gene associated with<unk>  is located at a locus on 10q21.3-q22.1, which begins at the 21st position on the long arm of chromosome 10, although the determination of a definitively causative genetic mutation has not been agreed upon. The changes in the KIAA1279 gene are expected to cause problems in nervous system development due to a loss of functioning protein product. This is shown by the KIAA1279 gene's connection to both Hirschsprung disease and bilateral generalized polymicrogyria, characteristics of<unk><unk>  sydrome.
Goldberg–Shprintzen syndrome
Schinzel–Giedion syndrome
Smith Martin Dodd syndrome
Shprintzen–Goldberg syndrome
Bardet–Biedl syndrome
Saethre–Chotzen syndrome
Pelger–Huët anomaly
Keppen–Lubinsky syndrome