We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.

中文翻译：

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从头开始的2q36.3q37.1缺失（包括TRIP12和NPPC）产生不同的表型。

我们报告了一名发育迟缓，身材极短，手小，面部畸形，听力下降和癫痫症的患者，其从头开始出现2q36.3q37.1的2.76-Mb缺失，包括TRIP12和NPPC。TRIP12单倍体不足会导致发育迟缓，面部畸形孤立，而NPPC单倍体不足会导致身材矮小和手小。这是独特表型的首次报道，该表型次于包含TRIP12和NPPC的微缺失。