Orofaciodigital Syndrome Vi (OFD6)

口面指/趾综合征6型(来自ICD-11)

别称:

Varadi-Papp Syndrome

Ofd6

Joubert Syndrome with Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Varadi Syndrome

Polydactyly, Cleft Lip/palate or Lingual Lump, and Psychomotor Retardation

Polydactyly-Cleft Lip/palate-Psychomotor Retardation Syndrome

Joubert Syndrome with Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome, Type Vi

Oral-Facial-Digital Syndrome Type 6

Orofaciodigital Syndrome 6

Ofds Vi

Polydactyly Cleft Lip Palate Psychomotor Retardation

Orofaciodigital Syndrome, Type Vi

Joubert-Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome 6

Váradi-Papp Syndrome

Váradi Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Orofaciodigital Syndrome Vi，也被称为Varadi-Papp综合症，与Orofaciodigital Syndrome I和Orofaciodigital Syndrome III有关。与Orofaciodigital Syndrome Vi有关的重要基因是CPLANE1（Ciliogenesis And Planar Polarity Effector Complex Subunit 1），其相关通路/超级通路包括有丝分裂中心体中Nlp的丧失和细胞器生物发生和维护。相关组织包括舌和眼，相关表型包括智力障碍和发育不良。

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