A number of mutations have been identified in individuals with<unk>  <unk>  which allowed for classification of the disorder into subtypes. This disorder can be caused by mutations in more than 30 genes within genetic makeup. The primary cilia play an important role in the structure and function of cells. When primary cilia are mutated and defected, it can cause various genetic disorders among individuals. This mutation of primary cilia can disrupt significant signaling pathways during the development of the fetus. Mutations in these various genes are known for causing around 60-90% of<unk>  cases. The remaining cases, the cause is unknown if isn't linked to a mutation of known genes. Type OMIM Gene Locus Inheritance Remarks<unk> 1 INPP5E 9q34.3 Autosomal recessive Also known as Cerebellooculorenal syndrome 1 (CORS1)<unk> 2 TMEM216 11q12.2 Autosomal recessive Also known as Cerebellooculorenal syndrome 2 (CORS2)<unk> 3 AHI1 6q23.3 Autosomal recessive<unk> 4 NPHP1 2q13<unk> 5 CEP290NPHP6 12q21.32 Autosomal recessive<unk> 6 TMEM67 8q22.1 Autosomal recessive<unk> 7 RPGRIP1L 16q12.2<unk> 8 ARL13B 3q11.1<unk> 9 CC2D2A 4p15.32 Autosomal recessive<unk> 10 OFD1 Xp22.2 X-linked recessive<unk> 11 – TTC21B 2q24.3<unk> 12 – KIF7 15q26.1 Overlapping phenotype with acrocallosal syndrome<unk> 13 TCTN1 12q24.11<unk> 14 TMEM237 2q33.1 Autosomal recessive<unk> 15 CEP41 7q32.2 Autosomal recessive<unk> 16 TMEM138 11q12.2 Autosomal recessive<unk> 17 C5ORF42 5p13.2<unk> 18 TCTN3 10q24.1<unk> 19 – ZNF423 16q12.1 Autosomal dominant<unk> 20 TMEM231 16q23.1 Autosomal recessive CSPP1, 8q13.2 Autosomal recessive - ARMC9 2q37.1 Autosomal recessive FAM149B1 10q22.2 Autosomal recessive
Joubert syndrome
Goldenhar syndrome
Kaufman oculocerebrofacial syndrome
Wolfram syndrome
Hurler–Scheie syndrome
TORCH syndrome
Timothy syndrome
Axenfeld–Rieger syndrome