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Table 2 OMIM genes deleted or duplicated in our patients, with related phenotypes and model of inheritance

From: Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

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
  1. AD Autosomal dominant, AR Autosomal recessive