英语词汇“mental retardation autosomal dominant type, 14”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	mental retardation autosomal dominant type, 14
释义	mental retardation autosomal dominant type, 14 mental retardation autosomal dominant type, 14 A condition (OMIM:614607) characterised by severe mental retardation and congenital defects, such as abnormal corpus callosum, absent or hypoplastic fifth finger- or toenails, sparse scalp hair, long eyelashes, coarse facies with wide mouth, thick lips, and abnormal ears. Molecular pathology Defects in ARID1A, which encodes a protein belonging to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, cause mental retardation autosomal dominant type 14.
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