张力减退
身材矮小
医学
生长迟缓
表型
儿科
癫痫病
癫痫
精神科
遗传学
生物
怀孕
基因
作者
Ingeborg Barišić,Ivo Ligutić,L Zergollern
标识
DOI:10.1136/jmg.33.10.882
摘要
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.
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