| PatientID | Diagnosis | AgeOfDiagnosis | TrivialName | SystematicName | TrivialName2 | SystematicName2 |
| 1059 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | L48S | c.143T>C | R243X | c.727C>T |
| 1058 | PHENYLKETONURIA (MIM 261600) | 5.96 Day(s) | | | | |
| 1057 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (MIM 277400) | 8.43 Week(s) | | c.271dupA | | c.271dupA |
| 1056 | ISOVALERIC ACIDEMIA (MIM 243500) | 4 Day(s) | | | | |
| 1055 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (MIM 201475) | 9 Day(s) | V243A | c.848T>C | V243A | c.848T>C |
| 1054 | GALACTOSEMIA (MIM 230400) | 4 Day(s) | Q188R | c.1466A>G | Q188R | c.1466A>G |
| 1053 | S-ADENOSYLHOMOCYSTEINE HYDROLASE (MIM 180960) | 2.44 Year(s) | | | | |
| 1052 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R408W | c.1222C>T | IVS12nt1g>a | c.1315+1g>a |
| 1051 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 7 Day(s) | G85R | c.253G>C | G85R | c.253G>C |
| 1050 | ISOVALERIC ACIDEMIA (MIM 243500) | 10.36 Year(s) | | | | |
| 1049 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 1048 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | Y414C | c.1241A>G | IVS12nt1g>a | c.1315+1g>a |
| 1047 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 2 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 1046 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | L48S | c.143T>C | R408W | c.1222C>T |
| 1045 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 21.98 Month(s) | P302L | c.905C>T | P302L | c.905C>T |
| 1044 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 5.55 Year(s) | P302L | c.905C>T | P302L | c.905C>T |
| 1043 | GALACTOSEMIA (MIM 230400) | 5 Day(s) | Q188R | | Q188R | |
| 1042 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 9 Day(s) | K329E | c.985A>G | IVS6nt2T>C | |
| 1041 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 14 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 1040 | PHENYLKETONURIA (MIM 261600) | 3 Week(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 1039 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | L48S | c.143T>C | IVS12nt1g>a | c.1315+1g>a |
| 1038 | TYROSINEMIA, TYPE I (MIM 276700) | 2 Day(s) | | | | |
| 1037 | PHENYLKETONURIA (MIM 261600) | 17.45 Month(s) | R158P | c.473G>C | R243X | c.727C>T |
| 1036 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | | | | |
| 1035 | PHENYLKETONURIA (MIM 261600) | | | | | |
| 1034 | ISOVALERIC ACIDEMIA (MIM 243500) | 11 Day(s) | | | | |
| 1033 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 4.29 Week(s) | | | | |
| 1032 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (MIM 255120) | 11.47 Month(s) | S723L | c.2168C>T | S723L | c.2168C>T |
| 1031 | UNKNOWN (MIM 1) | | | | | |
| 1030 | UNKNOWN (MIM 1) | | | | | |
| 1029 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (MIM 237310) | 5.23 Month(s) | fs204X | c.544delC | fs204X | c.544delC |
| 1028 | BEHR SYNDROME (MIM 210000) | 6 Day(s) | | | | |
| 1024 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 10.48 Month(s) | R254X | c.760C>T | T456I | c.1367C>T |
| 1015 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 15.08 Year(s) | | | | |
| 1027 | PHENYLKETONURIA (MIM 261600 | 4 Day(s) | I65T | c.194T>C | I95del | |
| 1026 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | R408W | c.1222C>T | R261Q | c.782G>A |
| 1025 | PHENYLKETONURIA (MIM 261600) | 8 Day(s) | F55fs | | R408W | c.1222C>T |
| 1023 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | W187R | c.559T>C | R408W | c.1222C>T |
| 1022 | PHENYLKETONURIA (MIM 261600) | 8 Day(s) | L213P | c.638T>C | V245A | c.734T>C |
| 1021 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | P281L | c.842C>T | A403V | c.1208C>T |
| 1018 | PHENYLKETONURIA (MIM 261600) | 4.96 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 1017 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | IVS7nt1G>A | c.842+1G>A | R408W | c.1222C>T |
| 1016 | PHENYLKETONURIA (MIM 261600) | 7.32 Year(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 1014 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 1013 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 2.74 Year(s) | K329E | c.985A>G | IVS10nt-1G>C | |
| 1012 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | Y414C | c.1241A>G | IVS12nt1g>a | c.1315+1g>a |
| 1011 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | Y67H | c.199T>C | K329E | c.985A>G |
| 1010 | TYROSINEMIA, TYPE I (MIM 276700) | 6 Day(s) | | | | |
| 1009 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R261Q | c.782G>A | R408W | c.1222C>T |
| 1008 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | IVS2nt-13t>g | | delL364 | |
| 1007 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | E390G | c.1169A>G | delE3 | |
| 1006 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R252W | c.754C>T | R408W | c.1222C>T |
| 1005 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | G239V | c.716G>T | R261Q | c.782G>A |
| 1004 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R158Q | c.473G>A | R408W | c.1222C>T |
| 1003 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C>T | Y414C | c.1241A>G |
| 1002 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | K320N | c.960G>C | R408W | c.1222C>T |
| 1001 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | K320N/ | c.960G>C | R408W | c.1222C>T |
| 1000 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 20 Day(s) | | | | |
| 999 | PROPIONIC ACIDEMIA (MIM 606054) | 20.4 Month(s) | | | | |
| 998 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 3 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 997 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | A403V | c.1208C>T | R408W | c.1222C>T |
| 996 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 3.71 Week(s) | | | | |
| 995 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 4 Day(s) | | | | |
| 994 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | | R83L | | R83L | |
| 993 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 6 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 992 | WILSON DISEASE (MIM 277900) | 2 Year(s) | | | | |
| 991 | HOMOCYSTINURIA (MIM 236200) | 6.79 Year(s) | IVS7-88G>A | c.828ins86 | | |
| 990 | PHENYLKETONURIA (MIM 261600) | 1 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 989 | PHENYLKETONURIA (MIM 261600) | 48.69 Year(s) | | | | |
| 985 | PHENYLKETONURIA (MIM 261600) | 2 Day(s) | R408W | c.1222C>T | IVS10nt-11g>a | |
| 981 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | L48S | c.143T>C | R261Q | c.782G>A |
| 980 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | R243X | c.727C>T | IVS7nt5g>a | c.842+5g>a |
| 979 | PHENYLKETONURIA (MIM 261600) | 10.52 Year(s) | L48S | c.143T>C | R408W | c.1222C>T |
| 978 | GALACTOSEMIA (MIM 230400) | 7 Day(s) | Q188R | | Q188R | |
| 977 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | I65T | c.194T>C | I95del | |
| 976 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R261Q | c.782G>A | R243L | c.728G>T |
| 975 | PHENYLKETONURIA (MIM 261600) | 8 Day(s) | I306V | c.916A>G | P281L | c.842C>T |
| 974 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 2.23 Month(s) | | | | |
| 973 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 8.28 Month(s) | | | | |
| 972 | CANAVAN DISEASE (MIM 271900) | 5.92 Month(s) | | | | |
| 971 | GALACTOSEMIA (MIM 230400) | 1 Day(s) | P325L | | R148W | |
| 970 | GALACTOSEMIA (MIM 230400) | 5 Day(s) | P325L | | R148W | |
| 969 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 5 Day(s) | | | | |
| 968 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | | | | | |
| 967 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 8 Day(s) | | | | |
| 966 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | IVS10nt-11g>a | | IVS10nt-11g>a | |
| 965 | NEURAMINIDASE DEFICIENCY (MIM 256550) | 8.38 Month(s) | | | | |
| 964 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | A403V | c.1208C>T | R408W | c.1222C>T |
| 963 | GLYCOGEN STORAGE DISEASE VI (MIM 232700) | 13.31 Month(s) | | | | |
| 962 | GLYCOGEN STORAGE DISEASE Ib (MIM 232220) | 6.08 Month(s) | p.C183R | | p.R300H | |
| 961 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | G239V | c.717G>T | IVS10nt-11g>a | |
| 960 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | | | | | |
| 959 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (MIM 277400) | 5 Day(s) | | | | |
| 958 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | Y414C | c.1241A>G | IVS4nt-5c>g | |
| 956 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | G148S | c.442G>A | P281L | c.842C>T |
| 955 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 13.33 Year(s) | G111R | c.333G>C | | |
| 954 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 44.03 Year(s) | G111R | c.333G>C | | |
| 953 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 952 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 3.42 Year(s) | G111R | c.333G>C | | |
| 951 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 6.07 Year(s) | G111R | c.333G>C | | |
| 950 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R261X | c.781C>T | IVS12nt!g>a | |
| 949 | HOMOCYSTINURIA (MIM 236200) | 7 Year(s) | S454L | c.1361C>T | S454L | c.1361C>T |
| 947 | HOMOCYSTINURIA (MIM 236200) | 9 Year(s) | S454L | c.1361C>T | S454L | c.1361C>T |
| 946 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 12.02 Month(s) | | c.IVS14+1G>A | | c.IVS14+1G>A |
| 945 | HOMOCYSTINURIA (MIM 236200) | 11 Year(s) | L338P | c.1013T>C | L338P | c.1013T>C |
| 944 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2.25 Year(s) | R41Q | c.122G>A | R41Q | c.122G>A |
| 943 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 16.99 Month(s) | H233R | c.698A>G | | c.27delG |
| 942 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2 Day(s) | H233R | c.698A>G | H233R | c.698A>G |
| 941 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | IVS10nt-11g>a | | IVS10nt-11g>a | |
| 940 | MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM (MIM 251880) | 16 Year(s) | | m.5703G>A | | m.5703G>A |
| 939 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | A403V | c.1208C>T | A403V | c.1208C>T |
| 938 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 2 Day(s) | K329E | c.985A>G | K329E | Lys>Glu |
| 937 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R158Q | c.473G>A | IVS4nt5g>t | c.441+5g>t |
| 936 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | F39L | c.117C>G | R252W | c.754C>T |
| 935 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 6 Day(s) | | | | |
| 934 | UNKNOWN (MIM 1) | 1 Day(s) | SLC25A13 | IVS11+1G>A | SLC25A13 | IVS11+1G>A |
| 933 | PHENYLKETONURIA II (MIM 261630) | 2.07 Year(s) | | | | |
| 932 | VITAMIN D-DEPENDENT RICKETS, TYPE II (MIM 277440) | 3 Year(s) | | | | |
| 931 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 930 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 929 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 928 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 927 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 926 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 925 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 924 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 923 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 922 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 921 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 920 | MEVALONATE KINASE (MIM 251170) | 0 Day(s) | | | | |
| 919 | CITRULLINEMIA, CLASSIC (MIM 215700) | 39 Year(s) | K310R | c.928A>C | 892delG | c.892delG |
| 918 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 1 Day(s) | R86H | c.257G>A | G390R | c.1168G>A |
| 917 | CITRULLINEMIA, CLASSIC (MIM 215700) | 25 Year(s) | R265H (mother) | c.794G>A | R265H | c.794G>A |
| 916 | CITRULLINEMIA, CLASSIC (MIM 215700) | 25 Year(s) | A118T | c.352G>A | ins37b-Ex15/16 | c.IVS15+1_+13del13 |
| 915 | CITRULLINEMIA, CLASSIC (MIM 215700) | 8.57 Week(s) | G362V | c.1085G>T | G362V | c.1085G>T |
| 914 | CITRULLINEMIA, CLASSIC (MIM 215700) | 7 Day(s) | G362V | c.1085G>T | G362V | c.1085G>T |
| 913 | CITRULLINEMIA, CLASSIC (MIM 215700) | 18 Year(s) | W179R | c.535T>C | G390R | c.1168G>A |
| 912 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | R363W (father) | c.1087C>T | V269M (mother) | c.805G>A |
| 911 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3.98 Month(s) | G390R (father) | c.1168G>A | T389I (mother) | c.1166C>T |
| 910 | CITRULLINEMIA, CLASSIC (MIM 215700) | 5 Year(s) | G117D (father) | c.350G>A | G390R (mother) | c.1168G>A |
| 909 | CITRULLINEMIA, CLASSIC (MIM 215700) | 14 Year(s) | R265H (mother) | c.794G>A | R265H | c.794G>A |
| 908 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Year(s) | R265H | c.794G>A | R279X | c.835C>T |
| 907 | CITRULLINEMIA, CLASSIC (MIM 215700) | 18 Year(s) | R265H | c.794G>A | 952delG | c.952delG |
| 906 | CITRULLINEMIA, CLASSIC (MIM 215700) | 62 Year(s) | R86H | c.257G>A | R86H | c.257G>A |
| 905 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | K310Q | c.928A>C | del7b-Ex16 | IVS15-1G>C |
| 904 | CITRULLINEMIA, CLASSIC (MIM 215700) | 8.02 Month(s) | E283K (father) | c.847G>A | E283K (mother) | c.847G>A |
| 903 | CITRULLINEMIA, CLASSIC (MIM 215700) | 7 Month(s) | G324S | c.970G>A | G324S | c.970G>A |
| 902 | CITRULLINEMIA, CLASSIC (MIM 215700) | 6 Day(s) | R304W | c.910C>T | R304W | c.910C>T |
| 901 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | R95S + P96S | c.285G>T +c.286C>T | R95S + P96S | c.285G>T +c.286C>T |
| 900 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Week(s) | del7b-Ex16 | c.IVS15-1G>C | del7b-Ex16 | c.IVS15-1G>C |
| 899 | CITRULLINEMIA, CLASSIC (MIM 215700) | 1 Day(s) | G390R | c.1168G>A | G390R | c.1168G>A |
| 898 | CITRULLINEMIA, CLASSIC (MIM 215700) | 1 Day(s) | G390R (Father) | c.1168G>A | G390R (Mother) | c.1168G>A |
| 897 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | G390R (Father) | c.1168G>A | G390R (Mother) | c.1168G>A |
| 896 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | G390R | c.1168G>A | G390R | c.1168G>A |
| 895 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | G390R (Father) | c.1168G>A | G390R (Mother) | c.1168G>A |
| 894 | CITRULLINEMIA, CLASSIC (MIM 215700) | 5.98 Month(s) | R363Q (Father) | c.1088G | G390R (Mother) | c.1168G>A |
| 893 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | E191K (Father) | c.571G>A | | c.571G>A |
| 892 | CITRULLINEMIA, CLASSIC (MIM 215700) | 8.57 Week(s) | G390R | c.1168G>A | G390R | c.1168G>A |
| 891 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | G117S | c.349G>A | G117S | c.349G>A |
| 890 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | G117S (Father) | c.349G>A | G117S (Mother) | c.349G>A |
| 889 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | R272C (Father) | c.814C>T | R272C (Mother) | c.814C>T |
| 888 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | R157C (Father) | c.469C>T | R157C (Mother) | c.469C>T |
| 887 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | IVS6-2A>G (Father) | | IVS6-2A>G (Mother) | |
| 886 | CITRULLINEMIA, CLASSIC (MIM 215700) | 1 Day(s) | del-Ex7 | c.IVS6-2A>G | del-Ex7 | c.IVS6-2A>G |
| 885 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | del -Ex13 (Father) | c.IVS13+5G>A | | c.IVS13+5G>A |
| 884 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | ins67b | c.IVS14-9_Ex15+58dup | R304W | c.910C>T |
| 883 | CITRULLINEMIA, CLASSIC (MIM 215700) | 8 Day(s) | ins67b (Father) | c.IVS14-9_Ex15+58dup | C19R (Mother) | c.55T>C |
| 882 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | 299delG | c.299delG | 299delG | c.299delG |
| 881 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 8.57 Week(s) | N219Y | c.731A>T | N219Y | c.731A>T |
| 880 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 4 Day(s) | G362V | c.1085G>T | G362V | c.1085G>T |
| 879 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 12.02 Month(s) | N219Y | c.731A>T | G158V | c.549G>T |
| 878 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 1 Day(s) | N219Y | c.731A>T | R108H | c.399G>A |
| 877 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 1 Day(s) | N219Y | c.731A>T | N219Y | c.731A>T |
| 876 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 1 Day(s) | N219Y | c.731A>T | N219Y | c.731A>T |
| 875 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (MIM 307800) | 4.43 Week(s) | | | | |
| 874 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 10.18 Year(s) | | | | |
| 873 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 4 Day(s) | IVS5nt-5g>a | | IVS5nt-5g>a | |
| 871 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 5 Day(s) | | | | |
| 870 | PHENYLKETONURIA (MIM 261600) | 4.96 Day(s) | P89fsinsC | c.266-267insC | F55fsdelT | |
| 869 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,BETA SUBUNIT (MIM 143450) | 5 Day(s) | | | | |
| 868 | ISOVALERIC ACIDEMIA (MIM 243500) | 3.15 Month(s) | | | | |
| 867 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 24.09 Year(s) | G111R | c.333G>C | | |
| 866 | PORPHYRIA, ACUTE INTERMITTENT (MIM 176000) | 9.97 Year(s) | G111R | c.333G>C | | |
| 865 | GLUTARIC ACIDEMIA I (MIM 231670) | 19 Year(s) | | c.219delC | R132G | |
| 861 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED (MIM 146200) | 17.96 Day(s) | | | | |
| 859 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | | | | | |
| 858 | PHENYLKETONURIA (MIM 261600) | 1 Day(s) | R408W | c.1222C>T | IVS7nt1g>a | |
| 857 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | A395P | c.1183G>C | Y414C | c.1241A>G |
| 856 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | D415N | c.1245G>A | IVS4nt5g>t | |
| 855 | OSTEOGENESIS IMPERFECTA, TYPE I (MIM 166200) | 7.13 Month(s) | | | | |
| 854 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 5 Day(s) | | | | |
| 853 | ALPHA-METHYLACETOACETIC ACIDURIA (MIM 203750) | 11.5 Month(s) | | | | |
| 852 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | P281L | c.842C>T | R408W | c1222C>T |
| 851 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 850 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | Y67H | c.199T>C | K329E | c.985A>G |
| 849 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (MIM 201470) | 10 Year(s) | W115C | c.417G>C | Q341H | c.1095G>T |
| 846 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 7 Day(s) | | | | |
| 843 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | L48S | c.143T>C | R408W | c.1222C>T |
| 842 | GALACTOSEMIA (MIM 230400) | 14 Day(s) | | | | |
| 841 | PHENYLKETONURIA (MIM 261600) | 8 Day(s) | A403V | c.1209C>T | R408W | c.1222C>T |
| 840 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 6 Day(s) | | | | |
| 839 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R243X | c.729C>T | R243X | c.729C>T |
| 838 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | F55fs | c.165delT | I306V | c.916A>G |
| 837 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | E390G | c.1169A>G | R408W | c.1222C>T |
| 836 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (MIM 601820) | 1 Day(s) | | | | |
| 835 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,BETA SUBUNIT (MIM 143450) | 6 Day(s) | E510Q | | E510Q | |
| 834 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (MIM 601820) | 12 Day(s) | | | | |
| 833 | PYRUVATE CARBOXYLASE DEFICIENCY (MIM 266150) | 3 Day(s) | | | | |
| 832 | CITRULLINEMIA, CLASSIC (MIM 215700) | 12.88 Year(s) | W179R | c.535T>C | W179R | c.535T>C |
| 831 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 8.1 Year(s) | | | | |
| 830 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 (MIM 256730) | 5.23 Year(s) | | | | |
| 822 | PHENYLKETONURIA (MIM 261600) | | | | | |
| 821 | PROPIONIC ACIDEMIA (MIM 606054) | 6 Day(s) | | | | |
| 762 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 3 Day(s) | | | | |
| 760 | ISOVALERIC ACIDEMIA (MIM 243500) | 17 Day(s) | | | | |
| 759 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | P281L | c.842C>T | Y414C | c.1241A>G |
| 758 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R408W | c.1222C>T | Y414C | c.1241A>G |
| 757 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R261Q | c.782G>A | Y414C | c.1241A>G |
| 756 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 1 Day(s) | R123Q | c.369G>A | T226S | c.678C>G |
| 755 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 15.61 Month(s) | R123Q | c.369G>A | T226S | c.678C>G |
| 754 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 13.54 Month(s) | T237M | c.711C>T | R141H | c.423G>A |
| 753 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 13.67 Month(s) | T237M | c.711C>T | R141H | c.423G>A |
| 752 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 7.46 Month(s) | E197A | c.581A>C | R141H | c.423G>A |
| 751 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 14.92 Month(s) | V44A | c.132T>C | R141H | c.423G>A |
| 750 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 4.6 Month(s) | E93A | c.279A>C | R141H | c.423G>A |
| 749 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 14.92 Month(s) | F207S | c.621T>C | N216I | c.648A>T |
| 748 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 13.67 Month(s) | R141H | c.423G>A | P113L | c.339C>T |
| 747 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 6 Day(s) | K315E | c.943G>A | K315E | c.943G>A |
| 746 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 3.09 Year(s) | R141H | c.423G>A | T237M | c.711C>T |
| 745 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 2.09 Year(s) | R141H | c.423G>A | T237M | c.711C>T |
| 744 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 4.43 Week(s) | Y76C | c.228A>G | F207S | c.621T>C |
| 743 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 5.98 Month(s) | I153T | c.459T>C | R123X | |
| 742 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 10.81 Month(s) | R123Q | c.369G>A | V44A | c.132T>C |
| 741 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 19 Day(s) | F157S | c.471T>C | D65Y | c.195G>T |
| 740 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 13.96 Month(s) | R141H | c.423G>A | T237M | c.711C>T |
| 739 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 7 Month(s) | R141H | c.423G>A | T237M | c.711C>T |
| 738 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 11 Day(s) | V129M | c.387A>G | IVS3+2C>T | |
| 737 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 12.81 Month(s) | R123Q | c.369G>A | P113L | c.339C>T |
| 736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 5.98 Month(s) | R141H | c.423G>A | Y64C | c.192A>G |
| 733 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 9 Month(s) | R141H | c.423G>A | Y64C | c.192A>G |
| 732 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 6.11 Month(s) | Y64C | c.192A>G | Y64C | c.192A>G |
| 731 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 19 Day(s) | | | | |
| 730 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 3.21 Year(s) | R141H | c.423G>A | C241S | c.723G>C |
| 729 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 14.78 Month(s) | R141H | c.423G>A | C241S | c.723G>C |
| 728 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | A403V | c.1208C>T | R408W | c.1222C>T |
| 727 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (MIM 212065) | 12.32 Month(s) | | | | |
| 726 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 6 Day(s) | S288P | c.862T>C | H386R | c.1157A>G |
| 725 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | IVS10nt-11g>a | c.1066-11g>a | R408W | c.1222C>T |
| 724 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | A300S | c.898G>T | IVS12nt1g>a | |
| 723 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 1 Day(s) | A326P | c.976G>C | A326P | c.976G>C |
| 722 | GUANIDINOACETATE METHYLTRANSFERASE (MIM 601240) | 26 Year(s) | | c.491-492insG | | c.491-492insG |
| 721 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (MIM 201910) | 3.97 Month(s) | R356W | c.1068C>T | In8spliceMut(C/A>G) | |
| 720 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | H146Y | c.436C>T | Y414C | c.1241A>G |
| 719 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 10 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 718 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (MIM 201910) | 15 Day(s) | Q318X;450_457delGAGACTAC | c.Q318X;c.450_457delGAGACTAC | Q318X | c.Q318X |
| 717 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2 Day(s) | | | | |
| 716 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 15 Day(s) | | | | |
| 715 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | R261Q | c.782G>A | R243L | c.728G>T |
| 714 | TYROSINE TRANSAMINASE DEFICIENCY (MIM 276600) | 3.43 Year(s) | | | | |
| 713 | TYROSINE TRANSAMINASE DEFICIENCY (MIM 276600) | 6 Year(s) | | | | |
| 712 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R297H | c.890G>A | R408W | c.1222C>T |
| 710 | PHENYLKETONURIA (MIM 261600) | 14.95 Month(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 709 | GALACTOSEMIA (MIM 230400) | 10 Day(s) | Q188R | | T253K | c.758C>A |
| 708 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 707 | GLUTARIC ACIDEMIA I (MIM 231670) | 13.96 Month(s) | | | | |
| 706 | 3-@HYDROXYISOBUTYRIC ACIDURIA (MIM 236795) | 10.02 Month(s) | | | | |
| 705 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 1 Day(s) | | | | |
| 704 | CITRULLINEMIA, CLASSIC (MIM 215700) | 7 Day(s) | G362V | c.1085G>T | G362V | c.1085G>T |
| 703 | GALACTOSEMIA (MIM 230400) | 10 Day(s) | P325L | c.974C>T | P325L | c.974C>T |
| 702 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 7 Day(s) | G267R | c.799G>A | G267R | c.799G>A |
| 701 | HAWKINSINURIA (MIM 140350) | 0 Day(s) | | | | |
| 700 | PHENYLKETONURIA (MIM 261600) | 3.65 Year(s) | S310F | c.929C>T | R158Q | c.473G>A |
| 699 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | Y417N | | IVS7nt3g>c | |
| 698 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 697 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 696 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 695 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 7 Day(s) | | | | |
| 694 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 7 Day(s) | | | | |
| 693 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 16 Day(s) | | | | |
| 692 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 8 Day(s) | | | | |
| 691 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 690 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 4.63 Month(s) | | | | |
| 689 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 688 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 17 Day(s) | | | | |
| 687 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 7.03 Month(s) | | | | |
| 686 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 685 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 0 Day(s) | | | | |
| 684 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 23.56 Month(s) | | | | |
| 683 | UNKNOWN (MIM 1) | 17.38 Month(s) | | | | |
| 682 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 0 Day(s) | | | | |
| 681 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 0 Day(s) | | | | |
| 680 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 5 Day(s) | | | | |
| 679 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 12.75 Month(s) | | | | |
| 678 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (MIM 253270) | 0 Day(s) | | | | |
| 677 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (MIM 253270) | 0 Day(s) | | | | |
| 676 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (MIM 253270) | 3.39 Month(s) | | | | |
| 675 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (MIM 253270) | 0 Day(s) | | | | |
| 674 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 6.73 Year(s) | | | | |
| 673 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 0 Day(s) | | | | |
| 672 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 20.34 Month(s) | | | | |
| 671 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 37.26 Year(s) | | | | |
| 670 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 8.94 Year(s) | | | | |
| 669 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 11.4 Month(s) | | | | |
| 668 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 10 Day(s) | W179R | c.535T>C | W179R | c.535T>C |
| 667 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 0 Day(s) | | | | |
| 666 | L-2-HYDROXYGLUTARIC ACIDURIA (MIM 236792) | 0 Day(s) | | | | |
| 665 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 664 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 661 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 12.45 Month(s) | | | | |
| 660 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 659 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 7 Day(s) | R363W | c.1089A>T | V269M | c.807G>A |
| 658 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 23 Year(s) | Y218C | c.653A>G | | |
| 657 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 11 Year(s) | C ins in cod 291 | c.873insC | | |
| 655 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 25 Year(s) | P291fsinsC | c.873insC | | |
| 654 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 21 Year(s) | P291fsinsC | c.873insC | | |
| 653 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 20 Year(s) | P129T | c.387C>A | | |
| 652 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 38 Year(s) | c.IVS2nt-1G->A | | | |
| 651 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 19 Year(s) | | c.IVS2nt-1G->a | | |
| 648 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 0 Day(s) | | | | |
| 647 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 10.64 Month(s) | | | | |
| 646 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 15 Day(s) | | | | |
| 645 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 0 Day(s) | | | | |
| 644 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 4 Day(s) | | | | |
| 643 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 16.36 Month(s) | | | | |
| 642 | GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER (MIM 606777) | 0 Day(s) | | | | |
| 641 | GLYCOGEN STORAGE DISEASE III (MIM 232400) | 0 Day(s) | | | | |
| 640 | GLYCOGEN STORAGE DISEASE I (MIM 232200) | 0 Day(s) | | | | |
| 639 | GLYCOGEN STORAGE DISEASE I (MIM 232200) | 0 Day(s) | | | | |
| 638 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | G272X | c.814G>T | P281L | c.842C>T |
| 637 | PHENYLKETONURIA (MIM 261600) | 9.4 Month(s) | R261Q | c.782G>A | Y356X | c.1068C>G |
| 636 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | I65T | c.194T>C | R158Q | c.473G>A |
| 635 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 634 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 7.43 Week(s) | | | | |
| 633 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 0 Day(s) | | | | |
| 632 | PHENYLKETONURIA (MIM 261600) | 5.96 Day(s) | R408W | c.1222C>T | P281L | c.842C>T |
| 631 | PHENYLKETONURIA (MIM 261600) | 10.12 Month(s) | R261Q | c.782G>A | S349P | c.1045T>C |
| 630 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R158Q | c.473G>A | A395P | c.1183G>C |
| 629 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 628 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 627 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 5.29 Week(s) | | | | |
| 626 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 625 | CITRULLINEMIA, CLASSIC (MIM 215700) | 5.18 Year(s) | Q40L | c.119A>T | R363W | c.1087C>T |
| 624 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | F299C | c.896T>G | IVS12nt1g>a | |
| 623 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 12.44 Year(s) | | | | |
| 622 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 11.01 Year(s) | | | | |
| 621 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | F299C | c.896T>G | IVS12ntlg>a | |
| 620 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 24.34 Year(s) | | | | |
| 619 | PROPIONIC ACIDEMIA (MIM 606054) | 5 Day(s) | | | | |
| 618 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 14.9 Year(s) | | | | |
| 617 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 616 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 0 Day(s) | | | | |
| 615 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 12.42 Month(s) | | | | |
| 614 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 12 Day(s) | | | | |
| 613 | OROTIC ACIDURIA I (MIM 258900) | 12.19 Month(s) | | | | |
| 612 | PHENYLKETONURIA (MIM 261600) | 23.03 Month(s) | R243X | c.727C>T | P89fsinsC | c.266-267insC |
| 611 | HYPERGLYCEROLEMIA (MIM 307030) | 7.89 Year(s) | | | | |
| 610 | HYPERGLYCEROLEMIA (MIM 307030) | 8.94 Year(s) | | | | |
| 609 | HYPERGLYCEROLEMIA (MIM 307030) | 15.11 Month(s) | | | | |
| 608 | UNKNOWN (MIM 1) | 22.83 Month(s) | | | | |
| 607 | HYPERGLYCEROLEMIA (MIM 307030) | 0 Day(s) | | | | |
| 606 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | IVS10nt-11g>a | c.1066-11g>a | IVS10nt-11g>a | c.1066-11g>a |
| 605 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY (MIM 236250) | 3.67 Year(s) | | | | |
| 604 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 0 Day(s) | | | | |
| 603 | CITRULLINEMIA, CLASSIC (MIM 215700) | 7 Day(s) | | | | |
| 601 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 0 Day(s) | | | | |
| 600 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 0 Day(s) | | | | |
| 599 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 8 Day(s) | | | | |
| 598 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 0 Day(s) | | | | |
| 597 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 0 Day(s) | | | | |
| 596 | CYTOCHROME b OF COMPLEX III (MIM 516020) | 21.52 Year(s) | S35P | c.14849T>C | S35P | c.14849T>C |
| 595 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 3.22 Month(s) | | | | |
| 594 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 4.7 Month(s) | | | | |
| 593 | PHENYLKETONURIA (MIM 261600) | 2 Day(s) | R408W | c.1222C>T | | |
| 592 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 4 Day(s) | | | | |
| 591 | GLUTARIC ACIDEMIA I (MIM 231670) | 4.7 Year(s) | | | | |
| 590 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 21.52 Month(s) | | | | |
| 589 | GLUTARIC ACIDEMIA I (MIM 231670) | 2.27 Month(s) | | | | |
| 588 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 587 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 914.07 Year(s) | V203A | c.609T>C | | |
| 586 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 16.11 Year(s) | V203A | c.609T>C | | |
| 585 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I (MIM 125850) | 46.56 Year(s) | V203A | c.609T>C | | |
| 584 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 583 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 582 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 581 | GLUTARIC ACIDEMIA I (MIM 231670) | 17 Day(s) | | | | |
| 580 | GLUTARIC ACIDEMIA I (MIM 231670) | 1 Day(s) | | | | |
| 579 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C>T | IVS7nt1g>a | |
| 578 | GLUTARIC ACIDEMIA I (MIM 231670) | 11.01 Month(s) | | | | |
| 577 | GLUTARIC ACIDEMIA I (MIM 231670) | 8.21 Month(s) | | | | |
| 576 | GLUTARIC ACIDEMIA I (MIM 231670) | 5.3 Year(s) | | | | |
| 575 | GLUTARIC ACIDEMIA I (MIM 231670) | 14.29 Year(s) | | | | |
| 574 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 573 | GLUTARIC ACIDEMIA I (MIM 231670) | 3.78 Year(s) | | | | |
| 572 | GLUTARIC ACIDEMIA I (MIM 231670) | 19.02 Month(s) | | | | |
| 571 | GLUTARIC ACIDEMIA I (MIM 231670) | 10.41 Month(s) | | | | |
| 570 | GLUTARIC ACIDEMIA I (MIM 231670) | 10.51 Month(s) | | | | |
| 569 | GLUTARIC ACIDEMIA I (MIM 231670) | 10.23 Year(s) | | | | |
| 568 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 567 | GLUTARIC ACIDEMIA I (MIM 231670) | 0 Day(s) | | | | |
| 566 | GLUTARIC ACIDEMIA I (MIM 231670) | 6.24 Month(s) | | | | |
| 565 | GLUTARIC ACIDEMIA I (MIM 231670) | 5.06 Month(s) | | | | |
| 564 | GLUTARIC ACIDEMIA I (MIM 231670) | 10.97 Month(s) | | | | |
| 563 | GLUTARIC ACIDEMIA I (MIM 231670) | 3.71 Year(s) | | | | |
| 562 | GLUTARIC ACIDEMIA I (MIM 231670) | 19.62 Month(s) | | | | |
| 561 | GLUTARIC ACIDEMIA I (MIM 231670) | 4.57 Month(s) | | | | |
| 560 | PROPIONIC ACIDEMIA (MIM 606054) | 5 Day(s) | | | | |
| 559 | GLUTARIC ACIDEMIA I (MIM 231670) | 6.28 Month(s) | | | | |
| 558 | GLUTARIC ACIDEMIA I (MIM 231670) | 22.83 Month(s) | | | | |
| 557 | GLUTARIC ACIDEMIA I (MIM 231670) | 8.49 Year(s) | | | | |
| 556 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 11.04 Day(s) | N219Y | c.731A>T | N219Y | c.731A>T |
| 555 | GLUTARIC ACIDEMIA I (MIM 231670) | 2.55 Year(s) | | | | |
| 554 | GLUTARIC ACIDEMIA I (MIM 231670) | 19.81 Month(s) | | | | |
| 553 | GLUTARIC ACIDEMIA I (MIM 231670) | 15.15 Month(s) | | | | |
| 552 | FRUCTOSE INTOLERANCE, HEREDITARY (MIM 229600) | 0 Day(s) | | | | |
| 551 | FRUCTOSE INTOLERANCE, HEREDITARY (MIM 229600) | 4.5 Month(s) | | | | |
| 550 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,BETA SUBUNIT (MIM 143450) | 7 Day(s) | G1528C | c.4584G>T | G1528C | c.4584G>T |
| 549 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 548 | FRUCTOSE-1,6-BISPHOSPHATASE 1 (MIM 229700) | 2.36 Year(s) | | | | |
| 547 | FRUCTOSE-1,6-BISPHOSPHATASE 1 (MIM 229700) | 14.98 Month(s) | | | | |
| 546 | DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION (MIM 128230) | 12.82 Year(s) | | | | |
| 545 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 12.42 Month(s) | | | | |
| 544 | WILSON DISEASE (MIM 277900) | 5.55 Year(s) | | | | |
| 543 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 6 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 542 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 8.84 Month(s) | | | | |
| 541 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 19.21 Year(s) | | | | |
| 540 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 20 Day(s) | | | | |
| 539 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 0 Day(s) | | | | |
| 538 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 5.29 Month(s) | | | | |
| 537 | COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (MIM 220110) | 13.77 Year(s) | | | | |
| 536 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | T193L194fsdelCT | c.580-581delCT | IVS12nt1g>a | |
| 535 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 6 Day(s) | L328F | c.982C>T | L328F | c.982C>T |
| 534 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C>T | IVS12nt1g>a | |
| 533 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R158Q | c.473G>A | W187R | c.559T>C |
| 532 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (MIM 201470) | 6.86 Week(s) | 596C>T | | 596C>T | |
| 531 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 889.56 Year(s) | | | | |
| 530 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 5.29 Week(s) | | | | |
| 529 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 5.98 Year(s) | | | | |
| 528 | MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM (MIM 251880) | 0 Day(s) | R105X | c.313C>T | R105X | c.313C>T |
| 527 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 2.46 Month(s) | | | | |
| 526 | DIHYDROPYRIMIDINE DEHYDROGENASE (MIM 274270) | 4.81 Year(s) | | | | |
| 525 | DIHYDROPYRIMIDINASE (MIM 222748) | 2.27 Month(s) | | | | |
| 524 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 523 | DIHYDROPYRIMIDINASE (MIM 222748) | 4.66 Year(s) | | | | |
| 522 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 3.96 Year(s) | | | | |
| 521 | CYSTINURIA (MIM 220100) | 4.11 Month(s) | | | | |
| 520 | CYSTINURIA (MIM 220100) | 11.49 Year(s) | | | | |
| 519 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | I65T | c.194T>C | P281L | c.842C>T |
| 518 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R243X | c.727C>T | Y414C | c.1241A>G |
| 517 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R408W | c.1222C>T | Y414C | c.1241A>G |
| 516 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R408W | c.1222C>T | L48S | c.143T>C |
| 515 | CYSTINURIA (MIM 220100) | 14.42 Month(s) | | | | |
| 514 | CYSTINURIA (MIM 220100) | 11.1 Month(s) | | | | |
| 513 | WILSON DISEASE (MIM 277900) | 7.12 Year(s) | | | | |
| 512 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | Y343C | c.1028A>G | R408W | c.1222C>T |
| 511 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | P281L | c.842C>T | A403V | c.1208C>T |
| 510 | CITRULLINEMIA, CLASSIC (MIM 215700) | 12 Day(s) | | | | |
| 509 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 17 Day(s) | | | | |
| 508 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | | | | |
| 507 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | | | | |
| 506 | GLUTARIC ACIDEMIA I (MIM 231670) | 4.44 Year(s) | | | | |
| 505 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 1 Day(s) | | | | |
| 504 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | | | | |
| 503 | CITRULLINEMIA, CLASSIC (MIM 215700) | 2 Day(s) | | | | |
| 502 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | | | | |
| 501 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | | | | |
| 500 | CITRULLINEMIA, CLASSIC (MIM 215700) | 4 Day(s) | | | | |
| 498 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 4 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 497 | GLUTARIC ACIDEMIA I (MIM 231670) | 6 Day(s) | P248L | c.743C>T | P248L | c.743C>Pro>LeuT |
| 496 | CITRULLINEMIA, CLASSIC (MIM 215700) | 13.11 Month(s) | | | | |
| 495 | CITRULLINEMIA, CLASSIC (MIM 215700) | 8 Day(s) | G362V | | G362V | |
| 494 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R408W | c.1222C>T | Y414C | c.1241A>G |
| 493 | CANAVAN DISEASE (MIM 271900) | 2.53 Month(s) | | | | |
| 492 | CANAVAN DISEASE (MIM 271900) | 2.99 Month(s) | | | | |
| 490 | CANAVAN DISEASE (MIM 271900) | 7.79 Month(s) | | | | |
| 489 | CANAVAN DISEASE (MIM 271900) | 18.96 Month(s) | | | | |
| 488 | CANAVAN DISEASE (MIM 271900) | 3.8 Year(s) | | | | |
| 487 | CANAVAN DISEASE (MIM 271900) | 8.05 Month(s) | | | | |
| 486 | CANAVAN DISEASE (MIM 271900) | 10.44 Year(s) | | | | |
| 485 | CANAVAN DISEASE (MIM 271900) | 3.19 Month(s) | | | | |
| 484 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 0 Day(s) | | | | |
| 481 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 0 Day(s) | | | | |
| 480 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 16.03 Month(s) | | | | |
| 479 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 8.43 Week(s) | | | | |
| 468 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 6.11 Month(s) | | | | |
| 467 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 466 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 3.38 Month(s) | | | | |
| 465 | PHENYLKETONURIA (MIM 261600) | 0 Day(s) | Y414C | | Y414C | |
| 464 | PHENYLKETONURIA (MIM 261600) | 0 Day(s) | A104D | | K320N | |
| 463 | PHENYLKETONURIA (MIM 261600) | 3 Day(s) | del194 | | Y414C | |
| 462 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | IVS4nt1g>a | | IVS12nt1g>a | |
| 461 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 0 Day(s) | | | | |
| 460 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 5.81 Year(s) | | | | |
| 459 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 15 Day(s) | | | | |
| 458 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 3 Day(s) | | | | |
| 457 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 4.01 Month(s) | | | | |
| 456 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2.07 Month(s) | | | | |
| 455 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 9 Day(s) | | | | |
| 454 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | S310F | | IVS10nt-3c>t | |
| 453 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | D145V | c.434A>T | A395P | c.1183G>C |
| 452 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2.5 Month(s) | | | | |
| 451 | TYROSINEMIA, TYPE I (MIM 276700) | 3.19 Month(s) | | | | |
| 450 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 12.48 Month(s) | | | | |
| 449 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 8.29 Week(s) | | | | |
| 448 | TYROSINEMIA, TYPE I (MIM 276700) | 3.19 Month(s) | | | | |
| 447 | PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE (MIM 261750) | 6.31 Month(s) | | | | |
| 446 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | G272X | c.814G>T | A403V | c.1208C>T |
| 445 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | L48S | c.143T>C | L48S | c.143T>C |
| 444 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 10 Day(s) | | | | |
| 443 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 3.71 Month(s) | | | | |
| 442 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2.73 Year(s) | | | | |
| 441 | PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE (MIM 261750) | 10.35 Month(s) | | | | |
| 440 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 18 Day(s) | | | | |
| 439 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 20.14 Month(s) | | | | |
| 438 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 4 Day(s) | | | | |
| 437 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 4 Day(s) | | | | |
| 436 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R158Q | c.473G>A | T193L194fsdelCT | c.580-81delCT |
| 435 | PHENYLKETONURIA (MIM 261600) | 11 Day(s) | R158Q | c.473G>A | T193L194fsdelCT | c.580-81delCT |
| 434 | GALACTOSEMIA (MIM 230400) | 6 Day(s) | Q188R | | T253K | c.758C>A |
| 433 | UNKNOWN (MIM 1) | 0 Day(s) | | | | |
| 432 | GALACTOSEMIA (MIM 230400) | 7 Day(s) | Q188R | | S135L | c.404C>T |
| 431 | GALACTOSEMIA (MIM 230400) | 7.96 Day(s) | | | | |
| 430 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 0 Day(s) | | | | |
| 429 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 6.31 Month(s) | | | | |
| 428 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | P281L | c.842C>T | R408W | c.1222C>T |
| 427 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 1 Day(s) | | | | |
| 426 | ARGININOSUCCINIC ACIDURIA (MIM 207900) | 0 Day(s) | | | | |
| 425 | GALACTOSEMIA (MIM 230400) | 14 Day(s) | G1391A | | Q188R | |
| 424 | PROPIONIC ACIDEMIA (MIM 606054) | 6.43 Week(s) | | | | |
| 423 | GLUTARIC ACIDEMIA I (MIM 231670) | 5 Day(s) | | | | |
| 422 | GALACTOSEMIA (MIM 230400) | 4.43 Week(s) | G1391A | | | |
| 421 | PHENYLKETONURIA (MIM 261600) | 6 Day(s) | R261Q | c.782G>A | R408W | c.1222C>T |
| 420 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 5.04 Day(s) | | | | |
| 419 | GLUTARIC ACIDEMIA I (MIM 231670) | 11.1 Month(s) | | | | |
| 418 | FANCONI-BICKEL SYNDROME (MIM 227810) | 5.52 Month(s) | | | | |
| 417 | FANCONI-BICKEL SYNDROME (MIM 227810) | 7.26 Month(s) | | | | |
| 416 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (MIM 277400) | 16 Day(s) | | | | |
| 414 | ALKAPTONURIA (MIM 203500) | 0 Day(s) | | | | |
| 413 | ALKAPTONURIA (MIM 203500) | 3.68 Month(s) | | | | |
| 412 | ALKAPTONURIA (MIM 203500) | 3.35 Month(s) | | | | |
| 411 | ALKAPTONURIA (MIM 203500) | 2.73 Month(s) | | | | |
| 410 | ALKAPTONURIA (MIM 203500) | 5.18 Year(s) | | | | |
| 409 | ALKAPTONURIA (MIM 203500) | 10.48 Month(s) | | | | |
| 408 | GALACTOSEMIA (MIM 230400) | 3 Week(s) | Q188R | | Q188R | |
| 407 | GALACTOSEMIA (MIM 230400) | 6 Day(s) | K285N | | | |
| 406 | PHENYLKETONURIA (MIM 261600) | 1 Day(s) | IVS12nt1g>a | c.1315+1g>a | IVS10nt-11g>a | c.1066-11g>a |
| 405 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | IVS12nt1g>a | c.1315+1g>a | IVS10nt-11g>a | c.1066-11g>a |
| 404 | HOMOCYSTINURIA (MIM 236200) | 18.58 Year(s) | | | | |
| 403 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 0 Day(s) | | | | |
| 402 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 5.43 Week(s) | | | | |
| 401 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 7 Day(s) | | | | |
| 400 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 3.43 Week(s) | | | | |
| 399 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 6.43 Week(s) | | | | |
| 398 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 2.98 Year(s) | | | | |
| 397 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 3.48 Year(s) | | | | |
| 396 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 19.52 Month(s) | | | | |
| 395 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 8.08 Year(s) | | | | |
| 394 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 6.44 Month(s) | | | | |
| 393 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 15.47 Month(s) | | | | |
| 392 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 2.83 Month(s) | | | | |
| 391 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 8.71 Week(s) | | | | |
| 390 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 10.48 Month(s) | R443C | | R352W | |
| 389 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 10 Day(s) | | | | |
| 388 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 8.8 Month(s) | | | | |
| 387 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 15 Day(s) | | | | |
| 386 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 14.49 Month(s) | | | | |
| 385 | PHENYLKETONURIA (MIM 261600) | 3.09 Month(s) | IVS10-11g>a | | IVS10-11g>a | |
| 384 | ALPHA-METHYLACETOACETIC ACIDURIA (MIM 203750) | 5.75 Month(s) | | | | |
| 383 | HOMOCYSTINURIA (MIM 236200) | 5 Day(s) | | | | |
| 382 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 9.03 Year(s) | | | | |
| 381 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 6 Day(s) | | | | |
| 380 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 8 Day(s) | | | | |
| 379 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 2 Day(s) | | | | |
| 378 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 0 Day(s) | | | | |
| 377 | GLUTATHIONE SYNTHETASE DEFICIENCY (MIM 266130) | 10 Day(s) | | | | |
| 376 | GLUTATHIONE SYNTHETASE DEFICIENCY (MIM 266130) | 4.28 Week(s) | | | | |
| 375 | GLUTATHIONE SYNTHETASE DEFICIENCY (MIM 266130) | 6.44 Month(s) | | | | |
| 374 | REFSUM DISEASE (MIM 266500) | 4.93 Year(s) | | | | |
| 373 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2.66 Month(s) | | | | |
| 372 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 2.73 Month(s) | | | | |
| 371 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 4.4 Month(s) | | | | |
| 370 | ALKAPTONURIA (MIM 203500) | 0 Day(s) | | | | |
| 369 | ALKAPTONURIA (MIM 203500) | 0 Day(s) | | | | |
| 368 | ALKAPTONURIA (MIM 203500) | 6.08 Month(s) | | | | |
| 367 | ARGININEMIA (MIM 207800) | 4.6 Month(s) | | | | |
| 366 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 10 Day(s) | | | | |
| 365 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 6.42 Week(s) | | | | |
| 364 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 14.82 Month(s) | | | | |
| 363 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 362 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 361 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 360 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 359 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 358 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | A985G | c.985A>g |
| 357 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | A985G | c.985A>G |
| 356 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | A985G | c.985A>G |
| 355 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 354 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 353 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | A985G | c.985A>G |
| 352 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 0 Day(s) | A985G | c.985A>G | | |
| 351 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET (MIM 255110) | 6 Year(s) | S113L | c.439C>T | S113L | c.439C>T |
| 347 | ADRENAL HYPERPLASIA II (MIM 201810) | 2.63 Year(s) | | | | |
| 346 | WILSON DISEASE (MIM 277900) | 14.04 Year(s) | | | | |
| 345 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 16 Month(s) | A985G | c.985A>G | A985G | c.985A>G |
| 344 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 0 Day(s) | | | | |
| 343 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 7.29 Year(s) | | | | |
| 342 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 14.69 Month(s) | A958G | | A958G | |
| 341 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (MIM 201475) | 10 Day(s) | R413Q | c.1358G>A | R413Q | c.1358G>A |
| 340 | WILSON DISEASE (MIM 277900) | 3.61 Year(s) | | | | |
| 339 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 7 Day(s) | V269M | c.805G>A | R363W | c.1087C>T |
| 338 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 10 Day(s) | | | | |
| 337 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 3.43 Week(s) | | | | |
| 336 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 6 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 335 | ALKAPTONURIA (MIM 203500) | 4.35 Year(s) | | | | |
| 334 | ORNITHINE AMINOTRANSFERASE DEFICIENCY (MIM 258870) | 10.23 Year(s) | | | | |
| 333 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 19.91 Month(s) | | | | |
| 332 | KRABBE DISEASE (MIM 245200) | 15.34 Month(s) | | | | |
| 331 | 3-@HYDROXYISOBUTYRIC ACIDURIA (MIM 236795) | 14 Day(s) | | | | |
| 330 | CITRULLINEMIA, CLASSIC (MIM 215700) | 9 Day(s) | Q40L | c.119A>T | R363W | c.1087C>T |
| 329 | PROPIONIC ACIDEMIA (MIM 606054) | 2.3 Month(s) | | | | |
| 328 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 2 Day(s) | G181T | | G181T | |
| 327 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,BETA SUBUNIT (MIM 143450) | 8.31 Month(s) | G1528C | | G1528C | |
| 326 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 9.2 Month(s) | L109P | c.326 T>C | IVS8-1G>C | |
| 325 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 4.38 Year(s) | | | | |
| 324 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (MIM 201475) | 3.97 Month(s) | E130del | c.385_387del | | c.997insT |
| 323 | LEIGH SYNDROME (MIM 256000) | 12 Year(s) | | m.8993T>C | | m.8860A>G |
| 322 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 7.66 Month(s) | C380Y | c.1139G>A | IVS8-1g>a | |
| 321 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 3.16 Year(s) | C380Y | c.1139G>A | IVS8-1g>a | |
| 320 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 3 Week(s) | C183Y | c.549G>A | IVS8-1G>C | |
| 319 | SMITH-LEMLI-OPITZ SYNDROME (MIM 270400) | 7.02 Year(s) | C183Y | c.549 G>A | IVS8-1G>C | |
| 318 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 8 Day(s) | R1262X | | R1262X | |
| 317 | ORNITHINE AMINOTRANSFERASE DEFICIENCY (MIM 258870) | 13.74 Year(s) | | | | |
| 316 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 7.72 Week(s) | K329E | c.985A>G | Ip416T | c.1247T>C |
| 315 | CITRULLINEMIA, CLASSIC (MIM 215700) | 7 Month(s) | | | | |
| 314 | GLYCINE DECARBOXYLASE (MIM 238300) | 4 Day(s) | | | | |
| 313 | GLYCINE DECARBOXYLASE (MIM 238300) | 14.98 Month(s) | | | | |
| 312 | GLYCINE DECARBOXYLASE (MIM 238300) | 7.41 Year(s) | | | | |
| 311 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 16.03 Month(s) | K239E | | K239E | |
| 310 | ARGININEMIA (MIM 207800) | 8.02 Month(s) | | | | |
| 309 | MUCOLIPIDOSIS II (MIM 252500) | 8.02 Month(s) | | | | |
| 308 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 7 Day(s) | | | | |
| 307 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 306 | PEARSON MARROW-PANCREAS SYNDROME (MIM 557000) | 0 Day(s) | | | | |
| 305 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 11 Year(s) | R141Q??? | c.422G>A | | |
| 304 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 15.31 Month(s) | | | | |
| 303 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 1 Day(s) | | | | |
| 302 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 6 Day(s) | | | | |
| 301 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 237300) | 6 Day(s) | | | | |
| 300 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 9.25 Year(s) | | | | |
| 299 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 7.14 Week(s) | | | | |
| 298 | TYROSINEMIA, TYPE I (MIM 276700) | 6.04 Month(s) | | | | |
| 297 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 11 Day(s) | | | | |
| 296 | BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET (MIM 253260) | 3.93 Year(s) | | | | |
| 295 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 11.63 Month(s) | A372fsinsG | | K329E | |
| 294 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 1 Day(s) | | | | |
| 293 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 15 Day(s) | | | | |
| 292 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 17.87 Month(s) | | | | |
| 291 | TYROSINEMIA, TYPE I (MIM 276700) | 4 Day(s) | | | | |
| 290 | TYROSINEMIA, TYPE I (MIM 276700) | 3 Day(s) | | | | |
| 289 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (MIM 201475) | 5.39 Month(s) | | | | |
| 288 | TYROSINEMIA, TYPE I (MIM 276700) | 3.43 Week(s) | | | | |
| 287 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 0 Day(s) | | | | |
| 286 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 13 Day(s) | | | | |
| 285 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,ALPHA SUBUNIT (MIM 600890) | 5.16 Month(s) | | | | |
| 284 | TYROSINEMIA, TYPE I (MIM 276700) | 19.85 Month(s) | | | | |
| 283 | TYROSINEMIA, TYPE I (MIM 276700) | 20.04 Month(s) | | | | |
| 282 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 36.34 Year(s) | | | | |
| 281 | CANAVAN DISEASE (MIM 271900) | 5.49 Month(s) | | | | |
| 280 | CANAVAN DISEASE (MIM 271900) | 4.31 Month(s) | | | | |
| 279 | CANAVAN DISEASE (MIM 271900) | 3.98 Month(s) | | | | |
| 278 | CANAVAN DISEASE (MIM 271900) | 6.18 Month(s) | | | | |
| 277 | CANAVAN DISEASE (MIM 271900) | 4.37 Month(s) | | | | |
| 276 | CANAVAN DISEASE (MIM 271900) | 6.21 Month(s) | | | | |
| 275 | SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER20 (MIM 212138) | 5.08 Year(s) | | | | |
| 274 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 3.57 Year(s) | | | | |
| 273 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 3.96 Year(s) | | | | |
| 272 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 14.32 Month(s) | | | | |
| 271 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 2.7 Year(s) | | | | |
| 270 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (MIM 212140) | 4.37 Year(s) | | | | |
| 269 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 19 Day(s) | | | | |
| 268 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 6.93 Month(s) | | | | |
| 267 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 10.15 Month(s) | | | | |
| 265 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 6.94 Year(s) | | | | |
| 264 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 3.11 Year(s) | | | | |
| 263 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 9.41 Year(s) | | | | |
| 262 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MIM 271980) | 11.42 Year(s) | | | | |
| 261 | HAWKINSINURIA (MIM 140350) | 3.68 Year(s) | | | | |
| 260 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 5 Day(s) | | | | |
| 259 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 7.1 Month(s) | | | | |
| 258 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 18 Month(s) | | | | |
| 257 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 6 Day(s) | | | | |
| 256 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2 Day(s) | R165W | | R165W | |
| 255 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (MIM 246450) | 2.33 Year(s) | R165W | | R165W | |
| 254 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I (MIM 250950) | 4.45 Year(s) | | | | |
| 253 | TYROSINEMIA, TYPE I (MIM 276700) | 2.95 Year(s) | | | | |
| 252 | PROPIONIC ACIDEMIA (MIM 606054) | 3 Day(s) | | | | |
| 251 | PROPIONIC ACIDEMIA (MIM 606054) | 7 Day(s) | | | | |
| 250 | GLUTARIC ACIDEMIA I (MIM 231670) | 1 Day(s) | | | | |
| 249 | GLUTARIC ACIDEMIA I (MIM 231670) | 13.96 Month(s) | | | | |
| 248 | GLUTARIC ACIDEMIA I (MIM 231670) | 5.33 Year(s) | | | | |
| 247 | GLUTARIC ACIDEMIA I (MIM 231670) | 2.43 Month(s) | | | | |
| 246 | GLUTARIC ACIDEMIA I (MIM 231670) | 8.42 Year(s) | | | | |
| 245 | GLUTARIC ACIDEMIA I (MIM 231670) | 13.96 Month(s) | | | | |
| 244 | GLUTARIC ACIDEMIA I (MIM 231670) | 5.5 Year(s) | | | | |
| 243 | GLUTARIC ACIDEMIA I (MIM 231670) | 8.57 Week(s) | | | | |
| 242 | GLUTARIC ACIDEMIA I (MIM 231670) | 2.58 Year(s) | | | | |
| 241 | GLUTARIC ACIDEMIA I (MIM 231670) | 2.16 Year(s) | | | | |
| 240 | GLUTARIC ACIDEMIA I (MIM 231670) | 9 Month(s) | | | | |
| 239 | ARGININEMIA (MIM 207800) | 13.94 Year(s) | | | | |
| 238 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | I224T | c.671T->C | I224T | c.671T->C |
| 231 | TYROSINEMIA, TYPE III (MIM 276710) | 5 Day(s) | | | | |
| 230 | PHENYLKETONURIA (MIM 261600) | 4 Day(s) | E390G | c.1169A>G | IVS10nt-11g>a | c.1066-11g>a |
| 213 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MIM 210200) | 8 Day(s) | E99Q | c.295G>A | IVS16+1G>A | c.1574+1G>A |
| 212 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV (MIM 250951) | | | | | |
| 210 | PROPIONIC ACIDEMIA (MIM 606054) | 3.43 Week(s) | | | | |
| 209 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 18.33 Month(s) | G215S | c.719A>T | G215S | c.719A>T |
| 204 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 7 Day(s) | H627R | c.1956A>G | N219Y | c.731A>T |
| 203 | TYROSINEMIA, TYPE I (MIM 276700) | 3.57 Week(s) | | | | |
| 202 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (MIM 201475) | 0 Day(s) | delC237 | c.709_710delTG | delC237 | c.710_711delGT |
| 201 | HOMOCYSTINURIA (MIM 236200) | 3.82 Year(s) | D376N | c.1126G>A | | c.IVS 7+1 G>A |
| 200 | TYROSINEMIA, TYPE I (MIM 276700) | 2.66 Month(s) | | | | |
| 196 | TYROSINEMIA, TYPE I (MIM 276700) | 2.86 Month(s) | | | | |
| 195 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY (MIM 236250) | | | | | |
| 194 | METHYLMALONIC ACIDURIA, cblA TYPE (MIM 251100) | 4.14 Month(s) | | | | |
| 193 | UNKNOWN (MIM 1) | 7.13 Month(s) | | | | |
| 192 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 4 Day(s) | K329E | c.985A>G | K329E | c.985A>G |
| 191 | ISOVALERIC ACIDEMIA (MIM 243500) | 1 Day(s) | R88Q | c.350G>A | R88Q | c.350G>A |
| 190 | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,BETA SUBUNIT (MIM 143450) | 2 Day(s) | G1528C | c.4584G>T | G1528C | c.4584G>T |
| 189 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | 5 Day(s) | | | | |
| 188 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) | | K329E | | K329E | |
| 187 | PHENYLKETONURIA (MIM 261600) | 0 Day(s) | IVS12nt1g>a | c.1315+1g>a | IVS12ntg>a | c.1315+1g>a |
| 186 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 185 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | E390G | c.1169A>G | R408W | c.1222C>T |
| 173 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (MIM 251000) | 5.57 Week(s) | L328F | c.982C>T | L328F | c.982C>T |
| 172 | PHENYLKETONURIA (MIM 261600) | 9 Day(s) | V245A | c.734T->C | L348V | c.1042C->G |
| 171 | GLYCINE DECARBOXYLASE (MIM 238300) | | | | | |
| 167 | PHENYLKETONURIA (MIM 261600) | 7 Day(s) | L15S16fsdelCT | | R408W | c.1222C>T |
| 166 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R158Q | c.473G->A | A403V | c.1208C->T |
| 165 | CYSTINURIA (MIM 220100) | 2.1 Year(s) | | | | |
| 163 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 9 Day(s) | L111P | c.332T>C | | |
| 162 | PROPIONIC ACIDEMIA (MIM 606054) | 7.58 Week(s) | | | | |
| 161 | PROPIONIC ACIDEMIA (MIM 606054) | 5.96 Day(s) | | | | |
| 160 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (MIM 277400) | 3.86 Week(s) | | | | |
| 159 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | L48S | c.143T->C | Y387H | c.1159T->C |
| 157 | PHENYLKETONURIA (MIM 261600) | 10 Day(s) | R408W | c.143T->C | IVS12nt1g->a | c.1315+1g->a |
| 156 | HOMOCYSTINURIA (MIM 236200) | 10.85 Year(s) | H65R | c.194 A>G | V168M | c.502 G>A |
| 155 | ISOVALERIC ACIDEMIA (MIM 243500) | 14 Day(s) | R88Q | c.350G>A | R88Q | c.350G>A |
| 152 | CITRULLINEMIA, CLASSIC (MIM 215700) | 9 Day(s) | E191K | c.571G>A | E191K | c.571G>A |
| 151 | METHYLMALONIC ACIDURIA, cblA TYPE (MIM 251100) | 15.21 Month(s) | | | | |
| 149 | PROPIONIC ACIDEMIA (MIM 606054) | 6.99 Week(s) | | | | |
| 147 | PROPIONIC ACIDEMIA (MIM 606054) | 1 Day(s) | | | | |
| 146 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (MIM 231680) | 3 Day(s) | | | | |
| 145 | CITRULLINEMIA, CLASSIC (MIM 215700) | 3 Day(s) | G390R | c.1168G>A | G390R | c.1168G>A |
| 139 | PROPIONIC ACIDEMIA (MIM 606054) | | | | | |
| 133 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 20 Day(s) | | | | |
| 132 | ALKAPTONURIA (MIM 203500) | 6.21 Year(s) | | | | |
| 126 | MUCOPOLYSACCHARIDOSIS TYPE II (MIM 309900) | 20.4 Month(s) | | | | |
| 125 | MAPLE SYRUP URINE DISEASE (MIM 248600) | 3.71 Week(s) | | | | |
| 124 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | | | | |
| 123 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C->T | IVS12nt1g->a | c.1315+1g->a |
| 122 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | D145V | c.434A->T | R408W | c.1222C->T |
| 117 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET (MIM 605814) | 5 Day(s) | R363W | c.1089A>T | V269M | c.807G>A |
| 108 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | G243X | | A395P | c.1183G->C |
| 107 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | P89fsinsC | c.266-267insC | R158Q | c.473G->A |
| 106 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | L48S | c.143T->C | R408W | c.1222C->T |
| 105 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | L48S | c.143T->C | R408W | c.1222C->T |
| 104 | PHENYLKETONURIA (MIM 261600) | 1 Day(s) | R408W | c.1222C>T | R408W | c.1222C>T |
| 102 | PHENYLKETONURIA (MIM 261600) | 3.86 Week(s) | R158Q | c.473G->A | IVS12nt1g->a | c.1315+1g->a |
| 101 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C->T | R408W | c.1222C->T |
| 100 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) | 2.06 Year(s) | D175Y | c.525G>T | | |
| 98 | PHENYLKETONURIA (MIM 261600) | 12.35 Month(s) | L48S | c.143T->C | R408W | c.1222C->T |
| 97 | PHENYLKETONURIA (MIM 261600) | 12 Day(s) | R408W | c.1222C->T | K452fsinsA | c.1355insA |
| 85 | PHENYLKETONURIA (MIM 261600) | 0 Day(s) | I224T | c.671T->C | I224T | c.671T->C |
| 84 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C>T | K452fsinsA | c.1355insA |
| 83 | PHENYLKETONURIA (MIM 261600) | 9 Day(s) | | | | |
| 82 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | R408W | c.1222C->T | D415N | c.1243G->A |
| 81 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | E390G | c.1169A->G | R408W | c.1222C->T |
| 80 | PHENYLKETONURIA (MIM 261600) | 5 Day(s) | P281L | c.842C>T | R408W | c.1222C>T |
