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07.09.2022 - 1870

08.09.2022 - Phospholipid flippase ATP11A deficiency
07.09.2022 - Choline kinase, alpha deficiency (CHKA)
07.09.2022 - LETM1 deficiency
07.09.2022 - Thymidylate synthase deficiency (TYMS)
07.09.2022 - ALG5-CDG
07.09.2022 - Neurodevelopmental disorder with hypotonia and contractures due to C18orf32 loss-of-function
07.09.2022 - High-affinity copper transporter (CTR1) deficiency
07.09.2022 - Nucleoporin 62 deficiency (NUP62)
07.09.2022 - Skeletal anomalies and mental retardation syndrome (RAF5IF)
07.09.2022 - Mitochondrial cytidine diphosphate-diacylglycerol synthase deficiency (TAMM41)
07.09.2022 - Neurodevelopmental disorder involving postnatal microcephaly and failure to thrive (ATP9A)
07.09.2022 - Neurodevelopmental disorder with dystonia and seizures (SHQ1)
28.06.2022 - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (NR4A2)
28.06.2022 - Developmental and epileptic encephalopathy 102 (SLC38A3)
28.06.2022 - Leukodystrophy, childhood-onset, remitting (FBP2)
28.06.2022 - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (GLRA2)
28.06.2022 - Spermatogenic failure 70 (PDHA2)
28.06.2022 - Immunodeficiency 97 with autoinflammation (PIK3CG)
28.06.2022 - Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (CTU2)
17.03.2022 - GET3-CDG
17.03.2022 - GET4-CDG
17.03.2022 - CAMLG-CDG
17.03.2022 - THUMPD1 deficiency
17.03.2022 - MAN2C1 deficiency
17.03.2022 - Phospholipase C, ETA-1 deficiency (PLCH1)
17.03.2022 - Cardiolipin synthase 1 deficiency (CRLS1)
17.03.2022 - SLC26A6 deficiency
18.01.2022 - Low temperature viability protein 1 deficiency (LTV1)
18.01.2022 - Phosphatidylserine lipase deficiency ABHD16A
08.01.2022 - Arylsulfatase K deficiency (ARSK)
08.01.2022 - OGDHL deficiency
08.01.2022 - IMP dehydrogenase 2 deficiency (IMPDH2)
08.01.2022 - Mitochondrial encephalomyopathy with complex I and IV deficiency (SLIRP)
08.01.2022 - Nephrotic syndrome, type 11 (NUP107)
08.01.2022 - Nephrotic syndrome, type 18 (NUP133)
08.01.2022 - Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (GRIK2)
08.01.2022 - Intellectual developmental disorder (GRIK2)
08.01.2022 - Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (VPS50)
08.01.2022 - Usmani-Riazuddin syndrome (AP1G1)
23.12.2021 - Monocarboxylate transporter 8 deficiency (SLC16A2)
23.12.2021 - King-Denborough syndrome (RYR1)
23.12.2021 - Minicore myopathy with external ophthalmoplegia (RYR1)
22.10.2021 - EDEM3-CDG
16.09.2021 - ATP13A3 deficiency
08.09.2021 - SLC51B deficiency
08.09.2021 - SLC51A deficiency
08.09.2021 - PLCH1 deficiency
08.09.2021 - RBM28 deficiency
08.09.2021 - RBM28 deficiency
08.09.2021 - ATG7 deficiency
08.09.2021 - ATP9A deficiency
08.09.2021 - RINT1-CDG
08.09.2021 - STX5-CDG
08.09.2021 - PIGF-CDG
08.09.2021 - RPL3L deficiency
08.09.2021 - CREB3L3 deficiency
08.09.2021 - SLC37A4-CDG
06.09.2021 - ZFYVE19 deficiency
28.08.2021 - 4-hydroxyphenylpyruvate dioxygenase-like protein deficiency (HPDL)
28.08.2021 - Primary immune deficiency GIMAP6
18.08.2021 - Mineralocorticoid receptor NR3C2 superactivity
18.08.2021 - ADCK2 deficiency
08.06.2021 - Alexander disease (GFAP)
27.05.2021 - Bisphosphoglycerate mutase deficiency (BPGM)
27.05.2021 - PGM2L1 deficiency
27.05.2021 - SLC30A5 deficiency
27.05.2021 - POLR3K deficiency
26.05.2021 - VPS41 deficiency
26.05.2021 - VPS16 deficiency
26.05.2021 - POLR3GL deficiency
26.05.2021 - UQCRC1 deficiency
19.05.2021 - POGLUT1-CDG LGMDR21
19.05.2021 - Neurodevelopmental disorder with visual defects and brain anomalies (HK1)
14.02.2021 - Hephaestin-like protein 1 deficiency (HEPHL1)
14.02.2021 - Molybdopterin synthase sulfurase deficiency (MOCS3)
14.02.2021 - Pyridoxal kinase deficiency (PDXK)
14.02.2021 - NAD synthetase 1 deficiency (NADSYN1)
14.02.2021 - Neutral sphingomyelinase 3 deficiency (SMPD4)
14.02.2021 - UGP2-CDG
14.02.2021 - UGDH-CDG
14.02.2021 - VMA21-CDG
14.02.2021 - PIGK-CDG
14.02.2021 - PIGU-CDG
14.02.2021 - SLC10A7-CDG
14.02.2021 - Golgi-resident phosphoadenosine phosphate phosphatase deficiency (BPNT2)
14.02.2021 - Glycosaminoglycan xylosylkinase deficiency (FAM20B)
14.02.2021 - MAN2B2-CDG
14.02.2021 - SSR3-CDG
14.02.2021 - Sphingosine-1-phosphate transporter deficiency (SPNS2)
14.02.2021 - Mitochondrial malonyltransferase deficiency (MCAT)
14.02.2021 - Nucleoside diphosphate kinase 3 deficiency (NME3)
14.02.2021 - Oxa1-like deficiency (OXA1L)
14.02.2021 - TOMM70 deficiency
14.02.2021 - Cytosolic malate dehydrogenase deficiency (MDH1)
14.02.2021 - Mitochondrial ribosomal small subunit 39 deficiency (PTCD3)
14.02.2021 - Mitochondrial ribosomal small subunit 25 deficiency (MRPS25)
14.02.2021 - Mitochondrial ribosomal large subunit 24 deficiency (MRPL24)
14.02.2021 - Mitochondrial and cytoplasmic glycyl-tRNA synthetase deficiency (GARS1)
14.02.2021 - tRNA-His guanylyltransferase 1 like deficiency (THG1L)
14.02.2021 - RNase P catalytic subunit deficiency (PRORP)
14.02.2021 - Mitochondrial RNA polymerase deficiency (POLRMT)
14.02.2021 - Single-stranded DNA-binding protein 1 deficiency (SSBP1)
14.02.2021 - Mitochondrial ATP synthase F1 subunit O deficiency (ATP5PO)
14.02.2021 - Cytochrome c oxidase subunit 6A2 deficiency (COX6A2)
14.02.2021 - Complex I assembly factor 8 deficiency (NDUFAF8)
14.02.2021 - NADH dehydrogenase subunit C2 deficiency (NDUFC2)
14.02.2021 - NADH dehydrogenase alpha subcomplex subunit 8 deficiency (NDUFA8)
14.02.2021 - Mitochondrial NAD-dependent isocitrate dehydrogenase 3 subunit alpha deficiency (IDH3A)
14.02.2021 - Pyruvate dehydrogenase phosphatase regulatory subunit deficiency (PDPR)
14.02.2021 - Liver glycogenin 2 deficiency (GYG2)
14.02.2021 - Triokinase/FMN cyclase deficiency (TKFC)
14.02.2021 - Taurine transporter deficiency (SLC6A6)
14.02.2021 - Aspartate N-acetyltransferase deficiency (NAT8L)
14.02.2021 - Flavin adenine dinucleotide synthetase deficiency (FLAD1)
19.01.2021 - VPS4A deficiency
19.01.2021 - YIF1B deficiency
18.01.2021 - GFUS-CDG
18.01.2021 - YIF1B deficiency
18.01.2021 - Fatty Acyl-CoA reductase superactivity (FAR1)
18.01.2021 - Cytochrome c oxidase assembly factor 16 deficiency (COX16)
03.01.2021 - Lipase N deficiency (LIPN)
03.01.2021 - UQCRFS1 deficiency
24.11.2020 - Choline transporter deficiency (SLC5A7)
24.11.2020 - Ionotropic glutamate receptor delta type subunit 2 deficiency (GRID2)
24.11.2020 - Ionotropic glutamate receptor AMPA type subunit 2 deficiency (GRIA2)
24.11.2020 - Combined monoamine oxidase A and B deficiency (MAOA;MAOB)
24.11.2020 - Endosomal ferrireductase deficiency (STEAP3)
24.11.2020 - BMP6 deficiency
24.11.2020 - Deficiency of copper chaperone for superoxide dismutase (CCS)
24.11.2020 - MEDNIK-like syndrome (AP1B1)
24.11.2020 - Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency (ALDH1L2)
24.11.2020 - Site-1 protease deficiency (MBTPS1)
24.11.2020 - RAB3GAP2 deficiency
24.11.2020 - RAB3GAP1 deficiency
24.11.2020 - RAB18 deficiency
24.11.2020 - Carpenter syndrome (RAB23)
24.11.2020 - Dymeclin deficiency (DYM)
24.11.2020 - Combined factor V and factor VIII deficiency type 2 (MCFD2)
24.11.2020 - Combined factor V and factor VIII deficiency type 1 (LMAN1)
24.11.2020 - Grey platelet syndrome (NBEAL2)
24.11.2020 - Rubicon deficiency (RUBCN)
24.11.2020 - p34 deficiency (AAGAB)
24.11.2020 - AP4S1 deficiency
24.11.2020 - AP4M1 deficiency
24.11.2020 - AP4E1 deficiency
19.11.2020 - PRUNE1 deficiency
18.11.2020 - VPS13D deficiency
18.11.2020 - VPS13C deficiency
18.11.2020 - VAPB deficiency
18.11.2020 - Choreoacanthocytosis (VPS13A)
18.11.2020 - BAP31 deficiency
18.11.2020 - EMC1 deficiency
18.11.2020 - Griscelli syndrome type 3 (MLPH)
18.11.2020 - Griscelli syndrome type 2 (AB27A)
18.11.2020 - Griscelli syndrome type 1 (MYO5A)
18.11.2020 - Chediak-Higashi syndrome (LYST)
18.11.2020 - Hermansky-Pudlak syndrome type 10 (AP3D1)
18.11.2020 - Hermansky-Pudlak syndrome type 9 (BLOC1S6)
18.11.2020 - Hermansky-Pudlak syndrome type 8 (BLOC1S3)
18.11.2020 - Hermansky-Pudlak syndrome type 7 (DTNBP1)
18.11.2020 - Hermansky-Pudlak syndrome type 6 (HPS6)
18.11.2020 - Hermansky-Pudlak syndrome type 5 (HPS5)
18.11.2020 - Hermansky-Pudlak syndrome type 4 (HPS4)
18.11.2020 - Hermansky-Pudlak syndrome type 3 (HPS3)
18.11.2020 - Hermansky-Pudlak syndrome type 2 (AP3B1)
18.11.2020 - Hermansky-Pudlak syndrome type 1 (HPS1)
18.11.2020 - Hypomyelinating leukodystrophy type 12 (VPS11)
18.11.2020 - Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (VPS33B)
18.11.2020 - Famillial hemophagocytic lymphohistiocytosis type 3 (UNC13D)
18.11.2020 - SCYL1-binding protein deficiency (GORAB)
18.11.2020 - SCYL2 deficiency
18.11.2020 - SCYL1 deficiency
18.11.2020 - NBAS deficiency
18.11.2020 - VIPAS39 deficiency
18.11.2020 - VPS45 deficiency
18.11.2020 - TRAPPC12 deficiency
18.11.2020 - TRAPPC9 deficiency
18.11.2020 - TRAPPC6B deficiency
14.11.2020 - TRAPPC4 deficiency
14.11.2020 - TRAPPC2L deficiency
14.11.2020 - Spondyloepiphyseal dysplasia tarda (TRAPPC2)
14.11.2020 - Craniolenticulosutural dysplasia (SEC23A)
14.11.2020 - Archain 1 deficiency (ARCN1)
14.11.2020 - COPB2 deficiency
14.11.2020 - COPA deficiency
14.11.2020 - SPATA5 deficiency
14.11.2020 - Spartin deficiency (SPG20)
14.11.2020 - MSTO1 deficiency (MIEF2)
14.11.2020 - CHCHD2 deficiency
14.11.2020 - MICOS complex subunit MIC26 deficiency (APOO)
14.11.2020 - MICOS complex subunit MIC13 deficiency (MICOS13)
14.11.2020 - GNPNAT1-CDG
14.11.2020 - GALNT14-CDG
14.11.2020 - Shwachman-Diamond syndrome, EIF6 type
14.11.2020 - Shwachman-Diamond syndrome, DNAJC21 type
14.11.2020 - Shwachman-Diamond syndrome type 2 (EFL1)
14.11.2020 - Shwachman-Diamond syndrome type 1 (SBDS)
14.11.2020 - Poly(A)-specific ribonuclease deficiency (PARN)
14.11.2020 - Cytosolic ribosomal SA deficiency (RPSA)
14.11.2020 - Cytosolic small ribosomal subunit 23 deficiency (RPS23)
14.11.2020 - Cytosolic small ribosomal subunit 20 deficiency (RPS20)
14.11.2020 - Cytosolic large ribosomal subunit 21 deficiency (RPL21)
14.11.2020 - Cytosolic large ribosomal subunit 13 deficiency (RPL13)
14.11.2020 - Cytosolic large ribosomal subunit 10 deficiency (RPL10)
14.11.2020 - Diamond-Blackfan anemia type 20 (RPS15A)
14.11.2020 - Diamond-Blackfan anemia type 19 (RPL35)
14.11.2020 - Diamond-Blackfan anemia type 18 (RPL18)
14.11.2020 - Diamond-Blackfan anemia type 17 (RPS27)
14.11.2020 - Diamond-Blackfan anemia type 16 (RPL27)
14.11.2020 - Diamond-Blackfan anemia type 15 (RPS28)
14.11.2020 - Diamond-Blackfan anemia type 14 (TSR2)
14.11.2020 - Diamond-Blackfan anemia type 13 (RPS29)
14.11.2020 - Diamond-Blackfan anemia type 12 (RPL15)
14.11.2020 - Diamond-Blackfan anemia type 11 (RPL26)
14.11.2020 - Diamond-Blackfan anemia type 10 (RPS26)
14.11.2020 - Diamond-Blackfan anemia type 9 (RPS10)
14.11.2020 - Diamond-Blackfan anemia type 8 (RPS7)
14.11.2020 - Diamond-Blackfan anemia type 7 (RPL11)
14.11.2020 - Diamond-Blackfan anemia type 6 (RPL5)
14.11.2020 - Diamond-Blackfan anemia type 5 (RPL35A)
14.11.2020 - Diamond-Blackfan anemia type 4 (RPS17)
14.11.2020 - Diamond-Blackfan anemia type 3 (RPS24)
14.11.2020 - Diamond-Blackfan anemia type 1 (RPS19)
14.11.2020 - Nucleophosmin 1 deficiency (NPM1)
14.11.2020 - BMS1-related aplasia cutis congenita
05.11.2020 - Bowen-Conradi syndrome (EMG1)
05.11.2020 - NEPRO-related skeletal dysplasia
05.11.2020 - POP1 deficiency
05.11.2020 - Leukoencephalopathy with brain calcifications and cysts (SNORD118)
05.11.2020 - Autosomal recessive dyskeratosis congenita type 2 (NOLA2)
05.11.2020 - Autosomal recessive dyskeratosis congenita type 1 (NOLA3)
05.11.2020 - Dyskeratosis congenita, X-linked (DKC1)
05.11.2020 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (UBTF)
02.11.2020 - POLR3H-related primary ovarian insufficiency (POLR3H)
02.11.2020 - Wiedemann-Rautenstrauch syndrome (POLR3A)
02.11.2020 - POLR3-related leukodystrophy (POLR1C)
02.11.2020 - Acrofacial dysostosis, Cincinnati type (POLR1A)
02.11.2020 - Treacher Collins syndrome type 4 (POLR1B)
02.11.2020 - Treacher Collins syndrome type 3 (POLR1C)
02.11.2020 - Treacher Collins syndrome type 2 (POLR1D)
02.11.2020 - Treacher Collins syndrome type 1 (TCOF1)
02.11.2020 - AIMP2/p38 deficiency
02.11.2020 - AIMP1/p43 deficiency
02.11.2020 - Valyl-tRNA synthetase 1 deficiency (VARS1)
02.11.2020 - Tyrosyl-tRNA synthetase 1 deficiency (YARS1)
02.11.2020 - Tryptophanyl-tRNA synthetase 1 deficiency (WARS1)
02.11.2020 - Threonyl-tRNA synthetase 1 deficiency (TARS1)
02.11.2020 - Seryl-tRNA synthetase 1 deficiency (SARS1)
02.11.2020 - Phenylalanyl-tRNA synthetase subunit beta deficiency (FARSB)
02.11.2020 - Phenylalanyl-tRNA synthetase subunit alpha deficiency (FARSA)
02.11.2020 - Methionyl-tRNA synthetase 1 deficiency (MARS1)
02.11.2020 - Lysyl-tRNA synthetase 1 deficiency (KARS1)
02.11.2020 - Leucyl-tRNA synthetase 1 deficiency (LARS1)
02.11.2020 - Isoleucyl-tRNA synthetase 1 deficiency (IARS1)
02.11.2020 - Histidyl-tRNA synthetase 1 deficiency (HARS1)
02.11.2020 - Glutamyl-prolyl-tRNA synthetase 1 deficiency (EPRS1)
02.11.2020 - Glutaminyl-tRNA synthetase 1 deficiency (QARS1)
02.11.2020 - Cysteinyl-tRNA synthetase 1 deficiency (CARS1)
02.11.2020 - Aspartyl-tRNA synthetase 1 deficiency (DARS1)
01.11.2020 - Asparaginyl-tRNA synthetase 1 deficiency (NARS1)
01.11.2020 - Arginyl-tRNA synthetase 1 deficiency (RARS1)
01.11.2020 - Alanyl-tRNA synthetase 1 deficiency (AARS1)
01.11.2020 - Galloway-Mowat syndrome type 6 (WDR4)
01.11.2020 - Pseudouridine synthase 3 deficiency (PUS3)
01.11.2020 - Galloway-Mowat syndrome type 5 (TPRKB)
01.11.2020 - Galloway-Mowat syndrome type 4 (TP53RK)
01.11.2020 - Galloway-Mowat syndrome type 3 (OSGEP)
01.11.2020 - Galloway-Mowat syndrome type 2 (LAGE3)
01.11.2020 - Galloway-Mowat syndrome, GON7 type
01.11.2020 - Galloway-Mowat syndrome, YRDC type
01.11.2020 - Elongator complex protein 2 deficiency (ELP2)
01.11.2020 - Elongator complex protein 1 deficiency (ELP1)
01.11.2020 - tRNA-specific adenosine deaminase 3 deficiency (ADAT3)
01.11.2020 - NSUN2 deficiency
01.11.2020 - FTSJ RNA 2’-O-methyltransferase 1 deficiency (FTSJ1)
01.11.2020 - DALRD3 deficiency
31.10.2020 - tRNA methyltransferase 1 deficiency (TRMT1)
31.10.2020 - CLP1 deficiency
31.10.2020 - tRNA splicing endonuclease subunit 54 deficiency (TSEN54)
31.10.2020 - tRNA splicing endonuclease subunit 34 deficiency (TSEN34)
31.10.2020 - tRNA splicing endonuclease subunit 15 deficiency (TSEN15)
31.10.2020 - tRNA splicing endonuclease subunit 2 deficiency (TSEN2)
31.10.2020 - Ectonucleoside triphosphate diphosphohydrolase 1 deficiency (ENTPD1)
31.10.2020 - RNA-specific adenosine deaminase 2 deficiency ( ADARB1)
31.10.2020 - NUDT15 deficiency
31.10.2020 - Adenylosuccinate synthase-like 1 deficiency (ADSS1)
31.10.2020 - FAMIN deficiency (LACC1)
31.10.2020 - Adenosine deaminase superactivity (ADA)
31.10.2020 - Phosphoribosylaminoimidazole carboxylase deficiency (PAICS)
31.10.2020 - CTP synthase 1 deficiency (CTPS1)
31.10.2020 - Deoxythymidylate kinase deficiency (DTYMK)
31.10.2020 - Very low-density lipoprotein receptor deficiency (VLDLR)
31.10.2020 - ABCA12 lipid transporter deficiency (ABCA12)
31.10.2020 - Alkylglycerol monooxygenase deficiency (AGMO)
31.10.2020 - Phosphatidylinositol 4-kinase type 3 alpha deficiency (PI4KA)
28.10.2020 - Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency (PIK3C2A)
28.10.2020 - Perilipin 5 deficiency (PLIN5)
28.10.2020 - DIABLO deficiency
28.10.2020 - TIMM22 deficiency
28.10.2020 - Mitochondrial serine hydroxymethyltransferase deficiency (SHMT2)
25.05.2020 - Phosphatidylinositol 4-kinase type 2-alpha deficiency (PI4K2A)
17.03.2020 - Tenascin-R deficiency (TNR)
15.02.2020 - Sphingolipid-1-delta (4)-desaturase deficiency (DEGS1)
15.02.2020 - CTP-phosphoethanolamine cytidylyltransferase 2 deficiency (PCYT2)
31.01.2020 - Dynamin 2 deficiency (DNM2)
31.01.2020 - Kabuki syndrome (KMT2D)
31.01.2020 - UDP-galactose nucleotidase deficiency (CANT1)
31.01.2020 - Cathepsin C deficiency (CTSC)
15.01.2020 - ATP-binding cassette transporter superfamily A12 (ABCA12)
15.01.2020 - Short-chain dehydrogenase/reductase 9C deficiency (SDR9C7)
15.01.2020 - Arachidonate lipoxygenase 3 deficiency (ALOXE3)
15.01.2020 - Arachinodate 12R-lipoxygenase deficiency (ALOX12B)
15.01.2020 - 3-Ketodihydrosphingosine reductase deficiency (KDSR)
15.01.2020 - Catel-Manzke syndrome (TGDS)
15.01.2020 - Plasma retinol-binding protein deficiency (RBP4)
15.01.2020 - Mitochondrial Depletion Syndrome 4B (POLG)
06.10.2019 - Ondine syndrome (PHOX2B)
06.10.2019 - FOXA2 deficiency
06.10.2019 - Simpson-Golabi-Behmel syndrome (GPC3)
06.10.2019 - Perlmann syndrome (DIS3L2)
06.10.2019 - Costello syndrome (HRAS)
06.10.2019 - MSSGM1 deficiency (TRMT10A)
06.10.2019 - PASNA syndrome (CACNA1D)
06.10.2019 - Timothy syndrome (CACNA1C)
06.10.2019 - Sotos syndrome (NSD1;NFIX)
06.10.2019 - AKT3 superactivity
06.10.2019 - Turner syndrome
06.10.2019 - Kabuki syndrome (KMT2D; KDM6A)
06.10.2019 - Beckwith Wiedemann syndrome (IGF2;H19;CDKN1C;KCNQ1)
06.10.2019 - L-Arabinosuria
06.10.2019 - Lysine malabsorption syndrome
06.10.2019 - ABCC6 deficiency
06.10.2019 - DDX58 superactivity
06.10.2019 - MDA5 superactivity (IFIH1)
06.10.2019 - RNA-specific adenosine deaminase deficiency (ADAR)
06.10.2019 - SAMHD1 deficiency
06.10.2019 - Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
06.10.2019 - Mitochondrial methionyl-tRNA methyltransferase deficiency (NSUN3)
06.10.2019 - Mitochondrial malate dehydrogenase deficiency, tumoral phenotype (MDH2)
06.10.2019 - Methylthioadenosine phosphorylase deficiency (MTAP)
20.09.2019 - Sulfide:quinone oxidoreductase deficiency (SQOR)
20.09.2019 - Methylthioadenosine phosphorylase deficiency (MTAP)
20.09.2019 - Mitochondrial methionyl-tRNA methyltransferase deficiency (NSUN3)
20.09.2019 - Mitochondrial malate dehydrogenase deficiency, tumoral phenotype (MDH2)
06.07.2019 - Dihydrolipoamide succinyltransferase deficiency (DLST)
06.07.2019 - D-lactate dehydrogenase deficiency (LDHD)
06.07.2019 - Nucleoside transporter-1 deficiency (SLC28A1)
06.07.2019 - Isocitrate dehydrogenase 1 deficiency (IDH1)
06.07.2019 - SLC25A11 deficiency
06.07.2019 - PIGB deficiency
21.05.2019 - SQSTM1 deficiency
21.05.2019 - AP4S1 deficiency
21.05.2019 - AP4B1 deficiency
21.05.2019 - AP4M1 deficiency
21.05.2019 - AP4E1deficiency
21.05.2019 - TBCK deficiency
21.05.2019 - ALS2 deficiency
21.05.2019 - DCTN1 deficiency
21.05.2019 - MTMR14 deficiency
21.05.2019 - CHMP2B deficiency
01.03.2019 - MICU2 deficiency
01.03.2019 - HSPE1 deficiency
01.03.2019 - Mitochondrial rRNA methyltransferase MRM2 deficiency (MRM2)
28.02.2019 - dUTP pyrophosphatase deficiency (DUT)
28.02.2019 - Glutaminase deficiency (GLS)
28.02.2019 - Galactose mutarotase deficiency (GALM)
22.02.2019 - PET117 deficiency
22.02.2019 - Cytochrome c oxidase subunit 5A deficiency (COX5A)
22.02.2019 - Cytochrome C oxidase subunit 4I1 deficiency (COX4I1)
22.02.2019 - ADH dehydrogenase a subcomplex assembly factor 7 deficiency (NDUFAF7)
22.02.2019 - NADH dehydrogenase ß subcomplex subunit 10 deficiency (NDUFB10)
22.02.2019 - Norepinephrine transporter deficiency (SLC6A2)
22.02.2019 - Cationic amino acid transporter 3 deficiency (SLC7A3)
22.02.2019 - N-acetylneuraminate pyruvate lyase deficiency (NPL)
22.02.2019 - Mitochondrial ribosomal small subunit 28 deficiency (MRPS28)
22.02.2019 - Aldehyde dehydrogenase 1B1 deficiency (ALDH1B1)
22.02.2019 - Mitochondrial oxodicarboxylate carrier deficiency (SLC25A21)
22.02.2019 - ß-xylosidase deficiency
22.02.2019 - Mitochondrial ribosomal small subunit 14 deficiency (MRPS14)
22.02.2019 - Mercaptopyruvate sulfurtransferase deficiency (MPST)
22.02.2019 - CHCHD10 deficiency
22.02.2019 - GUF1 deficiency
22.02.2019 - ERAL1 deficiency
22.02.2019 - Prolyl tRNA synthetase deficiency (PARS2)
22.02.2019 - UQCC2 deficiency
22.02.2019 - TIMMDC1 deficiency
22.02.2019 - ATP1A1 deficiency
22.02.2019 - Cytosolic phospholipase A2a deficiency (PLA2G4A)
22.02.2019 - SLC7A14 deficiency
22.02.2019 - SLC6A17 deficiency
22.02.2019 - Topoisomerase 3a deficiency (TOP3A)
27.01.2019 - Fatty acid amide hydrolase 2 deficiency (FAAH2)
27.01.2019 - Rabenosyn-5 deficiency (RBSN)
13.12.2018 - Ornithine decarboxylase 1 superactivity (ODC1)
13.12.2018 - Fucokinase deficiency (FUK)
13.12.2018 - Retinoic acid receptor ß deficiency (RARB)
13.12.2018 - Lanostherol synthase deficiency (LSS)
13.12.2018 - Lysophosphatidic acid receptor 6 deficiency (LPAR6)
13.12.2018 - Lipase H deficiency (LIPH)
10.12.2018 - Clathrin deficiency (CLTC)
10.12.2018 - Inositol polyphosphate 5-phosphatase K deficiency (INPP5K)
10.12.2018 - 9-cis-retinoic acid-metabolizing cytochrome deficiency (CYP26C1)
10.12.2018 - Cathepsin B superactivity (CTSB)
10.12.2018 - Hydroxysteroid sulfotransferase deficiency (SULT2B1)
10.12.2018 - Chloride channel 2 superactivity (CLCN2)
10.12.2018 - SLC10A7 deficiency
10.12.2018 - Cytochrome b561 deficiency (CYB561)
10.12.2018 - Sodium dicarboxylate cotransporter 3 deficiency (SLC13A3)
10.12.2018 - Plasma membrane citrate transporter (seipin) superactivity (BSCL2)
10.12.2018 - NADH dehydrogenase a subcomplex subunit 6 deficiency (NDUFA6)
10.12.2018 - Conserved oligomeric Golgi complex subunit 4 superactivity (COG4)
10.12.2018 - Lysophosphatidylinositol acyltransferase 1 deficiency (MBOAT7)
10.12.2018 - Arylsulfatase G deficiency (ARSG)
10.12.2018 - Glutamate pyruvate transaminase 2 deficiency (GPT2)
10.12.2018 - GOSR2-CDG
18.07.2018 - Progesterone receptor deficiency (PGR)
18.07.2018 - Congenital lipoprotein(a) deficiency (LPA)
18.07.2018 - SCARB1 deficiency (SCARB1)
18.07.2018 - Mineralocortoid receptor overactivity (NR3C2)
18.07.2018 - Mineralocorticoid receptor deficiency (NR3C2)
18.07.2018 - Spermidine/spermine N(1)-acetyltransferase overactivity (SAT1)
18.07.2018 - Inositol polyphosphate 5-phosphatase K deficiency (INPP5K)
18.07.2018 - Squalene synthase deficiency (FDFT1)
18.07.2018 - 5,10-methenyltetrahydrofolate synthetase deficiency (MTHFS)
18.07.2018 - DAPIT deficiency (ATP5MD)
18.07.2018 - Acylceramide transacylase deficiency (PNPLA1)
18.07.2018 - CLPX deficiency
16.06.2018 - PIGH-CDG
16.06.2018 - Chondroitin 4-sulfotransferase 1 deficiency (CHST11)
16.06.2018 - Acyl-CoA-binding domain-containing protein 5 deficiency (ACBD5)
16.06.2018 - Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency (SLC10A1)
16.06.2018 - Ethanolaminephosphotransferase 1 deficiency (SELENOI)
16.06.2018 - Mitochondrial processing peptidase ß deficiency (PMPCB)
16.06.2018 - Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit C deficiency (GATC)
08.06.2018 - Peptidyl-tRNA hydrolase 2 deficiency (PTRH2)
08.06.2018 - Mitochondrial and cytoplasmic lysyl-tRNA synthetase deficiency (KARS)
08.06.2018 - Mitochondrial tryptophanyl-tRNA synthetase deficiency (WARS2)
08.06.2018 - Mitochondrial tRNA(Val) deficiency (MT-TV)
05.06.2018 - Succinate dehydrogenase subunit D deficiency, tumoral phenotype (SDHD)
05.06.2018 - Succinate dehydrogenase subunit C deficiency, tumoral phenotype (SDHC)
05.06.2018 - NUBPL deficiency
05.06.2018 - NADH dehydrogenase ß subcomplex subunit 8 deficiency (NDUFB8)
05.06.2018 - Mitochondrial ATP-Mg/phosphate transporter deficiency (SLC25A24)
05.06.2018 - Mitochondrial citrate carrier deficiency (SLC25A1)
05.06.2018 - Cytosolic glycerol-3-phosphate dehydrogenase deficiency (GPD1)
05.06.2018 - Adenine nucleotide translocator deficiency (SLC25A4)
05.06.2018 - Mitochondrial malate dehydrogenase deficiency (MDH2)
24.05.2018 - KCNJ10 deficiency
24.05.2018 - Transketolase deficiency (TKT)
24.05.2018 - Sedoheptulose kinase deficiency (SHPK)
24.05.2018 - L-xylulose reductase deficiency (DCXR)
24.05.2018 - Neurogenic differentiation factor 1 deficiency (NEUROD1)
24.05.2018 - Krüppel-like factor 11 deficiency
24.05.2018 - PAX4 deficiency
24.05.2018 - RFX6 deficiency
24.05.2018 - AKT2 superactivity
24.05.2018 - APPL1 deficiency
24.05.2018 - BLK deficiency
21.05.2018 - Nicotinamide nucleotide transhydrogenase deficiency (NNT)
21.05.2018 - NAD(P)HX dehydratase deficiency (NAXD)
21.05.2018 - NAD(P)HX epimerase deficiency (NAXE)
21.05.2018 - Mitochondrial NAD kinase 2 deficiency (NADK2)
21.05.2018 - Nicotinamide mononucleotide adenylyl transferase 1 deficiency (NMNAT1)
21.05.2018 - Flavin adenine dinucleotide synthetase deficiency (FLAD1)
21.05.2018 - Riboflavin transporter 1 deficiency (SLC52A1)
21.05.2018 - Methylmalonic aciduria and homocystinuria, cblX type (HCFC1)
21.05.2018 - BOLA3 deficiency (BOLA3)
21.05.2018 - NFU1 deficiency (NFU1)
03.03.2018 - Mitochondrial complex V subunit deficiency (MTATP8)
03.03.2018 - Mitochondrial complex V subunit deficiency (MTATP6)
03.03.2018 - Mitochondrial complex V subunit deficiency (ATP5E)
03.03.2018 - Mitochondrial complex V subunit deficiency (ATP5A1)
03.03.2018 - Mitochondrial complex V assembly deficiency (ATPAF2)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO3)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO2)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX8A)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX7B)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX6B1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX6A1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX4I2)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SURF1)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SCO2)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SCO1)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX20)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX15)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX14)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX10)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA7)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA6)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA5)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA3)
03.03.2018 - Mitochondrial complex III subunit deficiency (UQCRQ)
03.03.2018 - Mitochondrial complex III subunit deficiency (UQCRB)
03.03.2018 - Mitochondrial complex III assembly deficiency (LYRM7)
03.03.2018 - Mitochondrial complex III assembly deficiency (UQCC3) 03.03.2018 - Mitochondrial complex III assembly deficiency (UQCC2)
03.03.2018 - Mitochondrial complex III assembly deficiency (TTC19)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND6)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND5)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND4L)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND4)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND3)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND2)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB11)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB9)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB3)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA13)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA12)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA11)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA10)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA9)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA4)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS8)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS7)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS6)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS4)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS3)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFV2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFV1)
19.02.2018 - Mitochondrial complex I deficiency (TMEM126B)
19.02.2018 - Mitochondrial complex I deficiency (FOXRED1)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF6)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF5)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF4)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF3)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF2)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF1)
19.02.2018 - Farnesylpyrophosphate synthetase deficiency FDPS
19.02.2018 - Mevalonate pyrophosphate decarboxylase deficiency MVD
19.02.2018 - Phosphomevalonate kinase deficiency PMVK
18.02.2018 - Carnitine palmitoyl-transferase IC deficiency CPT1C
18.02.2018 - Primary systemic carnitine deficiency SLC22A5
18.02.2018 - Carnitine acetyltransferase deficiency CRAT
13/11/2017 - Epsilon-N-trimethyllysine hydroxylase deficiency TMLHE
13/11/2017 - Trehalase deficiency TREH
02/11/2017 - Mitochondrial complex III deficiency, nuclear type 5 UQCRC2
26/10/2017 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1
26/10/2017 - Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK
26/10/2017 - Maple sirup urine disease, mild variant PPM1K
23/10/2017 - Progressive familial intrahepatic cholestasis 5 NR1H4
23/10/2017 - Crigler-Najjar syndrome UGT1A1
23/10/2017 - Congenital bile acid synthesis defect ACOX2
23/10/2017 - Congenital bile acid synthesis defect ABCD3
23/10/2017 - Alpha-tocopherol transfer protein deficiency TTPA
22/10/2017 - Sjogren-Larsson syndrome ALDH3A2
02/10/2017 - Carbonic anhydrase VA deficiency CA5A
02/10/2017 - 2-Ketoadipic aciduria DHTKD1
02/10/2017 - Triosephosphate isomerase deficiency TPI1
02/10/2017 - Ronin deficiency THAP11
04/09/2017 - NAD deficiency and congenital malformations due to HYNU variants
04/09/2017 - NAD deficiency and congenital malformations due to HAAO variants
03/09/2017 - Mitochondrial epileptic encephalopathy TIMM50
03/09/2017 - COASY protein-associated neurodegeneration CoPAN