<unk>  is most often caused by a mutation in the gene CUL7 affecting three-quarters of affected individuals, including those in the Yakut population, but can also be seen with mutations in the genes OBS1 and CCDC8 at lower frequencies, about 16 percent of cases of this disorder. Mutations in other genes, some of which have not been identified, account for the remaining cases. This is an inheritable disorder and can be passed down from parent to offspring in an autosomal recessive pattern. An individual must receive two copies of the mutated gene, one from each parent, in order to be have<unk> . An individual can be a carrier for the disorder if they inherit only one mutant copy of the gene, but will not present any of the symptoms associated with the disorder.
3-M syndrome
3C syndrome
WHIM syndrome
RIDDLE syndrome
CAMFAK syndrome
HUPRA syndrome
STAR syndrome
TEMPI syndrome