<unk>  has an autosomal dominant inheritance pattern caused by a heterozygous mutation in the ACTB gene on chromosome 7p22. This mutation occurs de novo, typically meaning there is no family history prior to onset; the disorder presents for the first time in a family in the affected individual. However, once present<unk>  is characterized by an autosomal dominant inheritance pattern, as previously mentioned, which means that individuals with a heterozygous or homozygous dominant genotype will display the phenotypic traits associated with the syndrome. The severity of symptoms are linked to the size of the deletion on chromosome 7p22 because certain individuals may have a larger deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome.
Fryns-Aftimos syndrome
Yunis–Varon syndrome
Helsmoortel-Van der Aa syndrome
CAMFAK syndrome
Townes–Brocks syndrome
Teunissen–Cremers syndrome
Pretzel syndrome
Cortes Lacassie syndrome