With the increasing availability and clinical use of exome and whole-genome sequencing, reverse phenotyping is now becoming common practice in clinical genetics. Here, we report a patient identified through the Wellcome Trust Deciphering Developmental Disorders study who has homozygous pathogenic variants in CC2D2A and a de-novo heterozygous pathogenic variant in KIDINS220. He presents with developmental delay, intellectual disability, and oculomotor apraxia. Reverse phenotyping has demonstrated that he likely has a composite phenotype with contributions from both variants. The patient is much more mildly affected than those with Joubert Syndrome or Spastic paraplegia, intellectual disability, nystagmus, and obesity, the conditions associated with CC2D2A and KIDINS220 respectively, and therefore, contributes to the phenotypic variability associated with the two conditions.

中文翻译：

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具有CC2D2A和KIDINS220变体的儿童的非典型，轻度表现。

随着外显子组和全基因组测序的可用性和临床使用的增加，反向表型现在正成为临床遗传学中的普遍做法。在这里，我们报告了通过惠康信任破译发展障碍研究确定的一名患者，该患者在CC2D2A中具有纯合致病性变异，在KIDINS220中具有新型杂合性致病变异。他表现出发育迟缓，智力障碍和动眼性失用症。反向表型表明他可能具有两种表型的综合表型。与患有Joubert综合征或痉挛性截瘫，智力残疾，眼球震颤和肥胖症（分别与CC2D2A和KIDINS220有关的疾病）的患者相比，该患者的病情轻得多。