227650 FANCC Fanconi anemia, complementation group C 227645 G6PD Favism 134700 SLC46A1 Folate malabsorption, hereditary 229050 FMR1 Fragile X syndrome 300624 FXN Friedreich ataxia with retained reflexes 229300 ALDOB Fructose intolerance 229600 FH Fumarase [qgenomics.com]

Creveld syndrome 225500 SERPINA1 Emphysema due to AAT deficiency 613490 LAMB3 Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type 226700; 226650 LAMC2 Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type 226700; 226650 SYN1 Epilepsy [qgenomics.com]