Disorder | Distinguishing features | Gene or locus | Protein |
CAMRQ1 | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 1 | VLDLR | Very low-density lipoprotein receptor |
CAMRQ2 | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 2 | WDR81 | WD repeat domain 81 |
CAMRQ3 | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 3 | CA8 | Carbonic anhydrase 8 |
CAMRQ4 | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 4 | ATP8A2 | ATPase phospholipid transporting 8A2 |
IOSCA* | Infantile-onset spinocerebellar ataxia with hypotonia, ophthalmoplegia, hearing loss, sensory axonal neuropathy | TWNK | Twinkle mtDNA helicase |
EAOH/AOA1 | Ataxia, oculomotor apraxia, hypoalbuminemia | APTX | Aprataxin |
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