Table 2 OMIM genes deleted or duplicated in our patients, with related phenotypes and model of inheritance
Gene | OMIM | Phenotype | Inheritance |
|---|---|---|---|
CHRM3 | 118,494 | Prune belly syndrome | AR |
FMN2 | 606,373 | Mental retardation, autosomal recessive 47 | AR |
GREM2 | 608,832 | Tooth agenesis, selective, 9 | AD |
FH | 136,850 | Fumarase deficiency Leiomyomatosis and renal cell cancer | AR AD |
SDCCAG8 | 613,524 | Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 | AR - |
AKT3 | 611,223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ZBTB18 | 608,433 | Mental retardation, autosomal dominant 22 | AD |
COX20 | 614,698 | Mitochondrial complex IV deficiency | AR |
HNRNPU | 602,869 | Epileptic encephalopathy, early infantile, 54 | AD |