This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The gene is located on the short arm of chromosome 12 (12p12). A study published in 2019 examining 34 families shows that 74% (25/34 families) of the condition are likely to be of de novo occurrence as the variants could not be detected in parental blood samples. In 15% (5/34 families) of the patients the condition was likely inherited from a mosaic parent. In 3% (1/34), the condition was inherited from an affected parent. This means that the majority of the patients have parents who are unaffected whereas inheritance is also possible.
Lamb-Shaffer syndrome
Potocki–Shaffer syndrome
Worth syndrome
Achard–Thiers syndrome
Barth syndrome
Lachiewicz–Sibley syndrome
Shone's syndrome
Kleine–Levin syndrome