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31.07.2024 - Epithelial sodium channel 1 gamma subunit deficiency (SCNN1G)
31.07.2024 - Epithelial sodium channel 1 alpha subunit deficiency (SCNN1A)
31.07.2024 - Phosphopantothenoylcysteine decarboxylase deficiency (PPCDC)
31.07.2024 - Golgin A2 deficiency (GOLGA2)
31.07.2024 - RNU7-1 deficiency
31.07.2024 - LSM11 deficiency
31.07.2024 - Perilipin 4 deficiency (PLIN4)
31.07.2024 - Long-chain fatty acid-CoA ligase 5 deficiency (ACSL5)
31.07.2024 - Mitochondrial ribosomal large subunit 39 deficiency (MRPL39)
31.07.2024 - Onoctamin 6 deficiency (ANO6)
31.07.2024 - ATP112C flippase deficiency
30.07.2024 - Lipolysis-stimulated lipoprotein receptor deficiency (LSR)
30.07.2024 - Onoctamin 6 deficiency (ANO6)
30.07.2024 - ATP112C flippase deficiency
03.05.2024 - DAGLA deficiency
26.04.2024 - RAB33B deficiency
26.04.2024 - RRM1 deficiency
18.12.2023 - LYSET-CDG
13.12.2023 - VPS53-CDG
13.12.2023 - VPS51-CDG
13.12.2023 - STX16-CDG
13.12.2023 - GM130-CDG
21.11.2023 - ALG10-CDG
21.11.2023 - TMEM260-CDG
21.11.2023 - TMTC3-CDG
21.11.2023 - SEC63-CDG
21.11.2023 - COLGALT1-CDG
06.11.2023 - Na-sulfate cotransporter deficiency (SLC13A1)
18.10.2023 - BMP2-related skeletal dysplasia
04.10.2023 - WIPI2 deficiency
04.10.2023 - Exoribonuclease 1 deficiency (ERI1)
04.10.2023 - Peroxisomal straight-chain acyl-CoA superactivity deficiency (ACOX1)
04.10.2023 - UQCRH deficiency
04.10.2023 - Epithelial sodium channel 1 beta subunit deficiency (SCNN1B)
04.10.2023 - GABA type A receptor subunit alpha 3 deficiency (GABRA3)
04.10.2023 - PYURF deficiency
04.10.2023 - ARV1 deficiency
04.10.2023 - Zinc transporter SLC39A7 deficiency (SLC39A7)
04.10.2023 - Heparan sulfate 2-O-sulfotransferase 1 deficiency (HS2ST1)
04.10.2023 - GALNT2-CDG
04.10.2023 - DLG4 deficiency
04.10.2023 - TLCD3B deficiency
04.10.2023 - NDUFB7 deficiency
18.09.2023 - COG3-CDG
05.08.2023 - MAN2A2-CDG
07.07.2023 - Syntaxin 1A deficiency (STX1A)
02.06.2023 - 3-hydroxy-3-methylglutaryl-CoA reductase deficiency (HMGCR)
25.05.2023 - Serine palmitoyltransferase, small subunit A deficiency (SPTSSA)
29.04.2023 - Phosphoadenosine 5'-phosphosulfate transporter deficiency (SLC35B2)
01.04.2023 - Hereditary spastic paraplegia CHMP3
28.02.2023 - Zinc transporter 7 (SLC30A7) deficiency
26.01.2023 - SLC25A36 HI/HA syndrome
16.12.2022 - TAF8 deficiency
13.10.2022 - Mitochondrial ATP synthase beta-subunit deficiency ATP5F1B
13.10.2022 - COX11 deficiency
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