| | LOC129993645, LOC129993646 +419 more | Copy number loss | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | LOC129993633, LOC129993634 +532 more | Copy number loss | See cases | |
| | LOC129993624, LOC129993625 +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +553 more | Copy number loss | See cases | |
| | LOC129993692, LOC129993693 +561 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +478 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +697 more | Copy number loss | See cases | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC126807323, LOC126807324 +530 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +537 more | Copy number loss | See cases | |
| | LOC132090721, LOC132090722 +556 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +384 more | Copy number loss | See cases | |
| | LOC126807286, LOC126807287 +384 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +542 more | Copy number gain | See cases | |
| | LOC108254683, LOC110120635 +559 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +561 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +559 more | Copy number loss | See cases | |
| | LOC112997550, LOC112997551 +462 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +473 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +606 more | Copy number loss | See cases | |
| | LOC126807328, LOC126807329 +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +388 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +642 more | Copy number gain | See cases | |
| | LOC129993561, LOC129993562 +552 more | Copy number loss | See cases | |
| | LOC129993559, LOC129993560 +384 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +538 more | Copy number loss | See cases | |
| | LOC129993643, LOC129993644 +521 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +461 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +574 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +461 more | Copy number loss | See cases | |
| | LINC02116, LINC02120 +696 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +443 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +657 more | Copy number loss | See cases | |
| | LOC129993721, LOC129993722 +334 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +530 more | Copy number gain | See cases | |
| | LOC126807306, LOC126807307 +304 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANKRD33B, ATPSCKMT +113 more | Copy number loss | See cases | |
| | ANKRD33B, ATPSCKMT +70 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ADAMTS12, ADAMTS16 +89 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number gain | 5p partial monosomy syndrome | |
| | | Copy number loss | not provided | |
| | MARCHF11, MARCHF6 +67 more | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ANKRD33B, ATPSCKMT +6 more | Copy number gain | not provided | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | RETREG1, ANKRD33B +31 more | Copy number loss | not provided | |
| | ADAMTS12, ADAMTS16 +90 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANKRD33B, ATPSCKMT +6 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |