Human | NAGS | 162417 | N-acetylglutamate synthase | Patients with residual enzyme activity have childhood or adult onset |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | Adult onset has been reported (age 50 years) |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Young-adult onset (18-30 years) of sensory ataxia Young adult onset (age 20 years) |
Human | APTX | 54840 | aprataxin | Adult onset has been reported |
Human | VSX1 | 30813 | visual system homeobox 1 | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | Adolescent or adult onset associated with neuropsychiatric symptoms |
Human | PLEKHG4 | 25894 | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 | Late adult onset (after age 55 years) |
Human | POLG2 | 11232 | polymerase (DNA directed), gamma 2, accessory subunit | |
Human | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
Human | KIAA0196 | 9897 | KIAA0196 | Adult onset (18 to 60 years) |
Human | ARHGEF10 | 9639 | Rho guanine nucleotide exchange factor (GEF) 10 | |
Human | MYOT | 9499 | myotilin | Adult onset (mean 60 years) Adult onset (mean 27 years) |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Psychiatric manifestations more common with adult-onset of disease |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Psychiatric manifestations more common with adult-onset of disease |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Psychiatric manifestations more common with adult-onset of disease |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Psychiatric manifestations more common with adult-onset of disease |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | Adult onset polycystic kidney (50%) |
Human | BFSP2 | 8419 | beaded filament structural protein 2, phakinin | Cataract, adult-onset (punctate cortical) |
Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | Late-adult onset (fifth to sixth decade) |
Human | FGF23 | 8074 | fibroblast growth factor 23 | Generalized weakness (adult-onset) Pseudofractures (adult-onset) |
Human | TTN | 7273 | titin | Adult onset (after age 35 years) |
Human | TSC1 | 7248 | tuberous sclerosis 1 | Adult onset has been reported |
Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | Adult onset (mean 30 years, range 5-60 years) |
Human | SDHC | 6391 | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | Adult onset, wide range of age |
Human | SDHB | 6390 | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | Adult onset (mean 30 years, range 10-65 years) |