Human | TSEN54 | 283989 | TSEN54 tRNA splicing endonuclease subunit | Death in childhood may occur |
Human | HYLS1 | 219844 | hydrolethalus syndrome 1 | Live born infants die within few hours of birth |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | Death in childhood secondary to malabsorption |
Human | ANTXR2 | 118429 | anthrax toxin receptor 2 | |
Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | Death often secondary to pneumonia or congestive heart failure |
Human | FKRP | 79147 | fukutin related protein | Majority die within first year of life |
Human | SEPN1 | 57190 | selenoprotein N, 1 | Cause of death usually due to respiratory failure before adulthood |
Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | Death in first months of life |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Most patients die of hepatic failure by 9 months of age |
Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Death usually in first year of life |
Human | CLN6 | 54982 | ceroid-lipofuscinosis, neuronal 6, late infantile, variant | |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | Death in infancy secondary to kernicterus |
Human | TREM2 | 54209 | triggering receptor expressed on myeloid cells 2 | Profound dementia and death usually occurs by age 50 years |
Human | FOXP3 | 50943 | forkhead box P3 | Death usually occurs in infancy or childhood |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | Majority die within first year of life |
Human | VPS33B | 26276 | vacuolar protein sorting 33 homolog B (yeast) | |
Human | ABCA12 | 26154 | ATP-binding cassette, sub-family A (ABC1), member 12 | Death usually in the first few weeks |
Human | DOLK | 22845 | dolichol kinase | |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | Death within first year of life in 25% Rapidly progressive to persistent vegetative state or death |
Human | DLL3 | 10683 | delta-like 3 (Drosophila) | |
Human | POMT1 | 10585 | protein-O-mannosyltransferase 1 | Majority die within first year of life |
Human | CRTAP | 10491 | cartilage associated protein | Death in infancy secondary to respiratory insufficiency/pneumonia |
Human | ZMPSTE24 | 10269 | zinc metallopeptidase STE24 | Liveborn often die within first week of life |