Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive genetic trait due to mutations in the TWIST2 gene.
Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease).
When the mutation takes place in the BIN1 gene, the disease is instead autosomal recessive, and both genes must be mutated for the disease to be inherited.
The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations.
In partnership with Abraham Kornzweig, Bassen identified Bassen-Kornzweig disease, a rare autosomal recessive disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL).
Cystic fibrosis (CF) is an autosomal recessive hereditary disease of the lungs, sweat glands and digestive system.
It is suspected that Joseph suffered from Werner syndrome, a rare autosomal recessive disorder that is characterized by the appearance of premature aging.
Homozygous mutations in the HAX1 gene are associated with Kostmann disease, i.e. the "classical," autosomal recessive form of severe congenital neutropenia (SCN3).
Netherton syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor (LEKTI).
Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have impaired α-oxidation activity and accumulate large stores of phytanic acid in their blood and tissues.
Refsum disease, an autosomal recessive disorder that results from the accumulation of large stores of phytanic acid in tissues, frequently manifests peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss.
A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).
The Netherton syndrome Mendelian Inheritance in Man is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32), which encodes the serine protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor).
This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature.