Type 1<unk>  is caused by germline heterozygous loss of function variants in KMT2D (formerly known as the MLL2), located on human chromosome 12. It is estimated that between 55 and 80% of cases of<unk>  are of Type 1. Type 1<unk>  demonstrates an autosomal dominant pattern of inheritance. Type 2<unk>  is caused by germline hemizygous (in males) or heterozygous (in females) chromosome deletions or loss of function point variants involving KDM6A, located on the X chromosome. Approximately 5% of cases of<unk>  are of Type 2. Type 2<unk>  demonstrates an X-linked dominant pattern of inheritance. Most cases of<unk>  occur de novo, that is, the parents are unaffected and the gene was mutated early in embryological development. However, several cases of inherited mutations causing Type 1 or Type 2<unk>  are now known. About 30% of cases have no identifiable causative mutation. These may represent individuals with types of mutations that are challenging to detect via current routine investigations or patients who have disorders that share some features with<unk> .
Kabuki syndrome
SAPHO syndrome
Langer–Giedion syndrome
Kindler syndrome
Hajdu–Cheney syndrome
DiGeorge syndrome
ATR-X syndrome
Saethre–Chotzen syndrome