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中文Spinocerebellar Ataxia, Autosomal Recessive 3 (SCAR3)
Alias:
Scar3
Scabd
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Autosomal Recessive Spinocerebellar Ataxia Type 3
Autosomal Recessive Spinocerebellar Ataxia 3
Spinocerebellar Ataxia with Blindness and Deafness
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脊髓小脑性共济失调，常染色体隐性3型，也称为scar3，与高洛韦-莫特综合症1和脊髓小脑性共济失调，X连锁2有关。与脊髓小脑性共济失调，常染色体隐性3型相关的重要基因是PEX6（过氧化物酶体生成因子6）。附属组织包括骨，相关表型为眼震和听力障碍
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MALACARDS
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