Version May 2024
| Disorder | Inheritance | Gene | Clinical features |
| Mitochondrial disorders | |||
| Leigh syndrome | AR or X-linked | Pathogenic variants in nuclear genes (eg, SURF1) that cause respiratory chain complex deficiencies | Onset in infancy or childhood, rarely in adulthood; developmental delay, psychomotor regression, brainstem dysfunction, ataxia, dystonia, external ophthalmoplegia, seizures, weakness, lactic acidosis |
| Leigh syndrome | Maternal | Pathogenic variants in mitochondrial genes (eg, ATPase6) | As above |
| Leber hereditary optic neuropathy | Maternal | Pathogenic variants in mitochondrial genes that encode subunits of NADH dehydrogenase | Affects young adult males, usual onset in late teens, severe permanent visual loss, tremor, multiple sclerosis-like illness, extrapyramidal syndrome, seizures, ataxia, spasticity, intellectual disability, peripheral neuropathy |
| DNA repair disorders | |||
| Xeroderma pigmentosa | AR | XPA, XPB, XPC, XPD, XPE, XPF, XPG, XPV | Peripheral neuropathy, photosensitivity, cutaneous malignancy, skin atrophy and telangiectasia, keratitis, opacification of the cornea, iritis |
| Cockayne syndrome | AR | Type A: ERCC8 Type B: ERCC6 | Progressive dementia, large ears and sunken eyes, physical and intellectual disability, short stature, microcephaly, progressive neurologic dysfunction, optic atrophy, photosensitivity without increased frequency of cancer |
| Ataxia-telangiectasia | AR | ATM | Progressive cerebellar ataxia, oculocutaneous telangiectasias, immune deficiency, increased risk of malignancy, radiation sensitivity, diabetes mellitus |
| Hereditary tyrosinemia | |||
| Type I | AR | FAH | Severe progressive liver disease, renal tubular dysfunction, peripheral neuropathy, extensor hypertonia |
| Type II | AR | TAT | Keratitis, palmoplantar hyperkeratosis, intellectual disability, elevated blood tyrosine concentrations |
| Type III | AR | HPD | Hypertyrosinemia, intellectual disability |
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