Orofaciodigital Syndrome Xiv (OFD14)

Alias:

Orofaciodigital Syndrome Type 14

Ofd14

Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome Type 14

Orofaciodigital Syndrome, Type Xiv

Orofaciodigital Syndrome 14

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Xiv, is also known as orofaciodigital syndrome type 14. An important gene associated with Orofaciodigital Syndrome Xiv is C2CD3 (C2 Domain Containing 3 Centriole Elongation Regulator). Affiliated tissues include tongue and bone, and related phenotypes are intellectual disability and sleep apnea

Related ID：

MALACARDS：ORF036

OMIM：615948

MESH：D009958