Orofaciodigital Syndrome Vi (OFD6)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Vi, also known as varadi-papp syndrome, is related to orofaciodigital syndrome i and orofaciodigital syndrome iii. An important gene associated with Orofaciodigital Syndrome Vi is CPLANE1 (Ciliogenesis And Planar Polarity Effector Complex Subunit 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include tongue and eye, and related phenotypes are intellectual disability and failure to thrive

Related ID：

MALACARDS：ORF034

OMIM：277170

MESH：C536531