Orofaciodigital Syndrome Iv (OFD4)

Alias:

Baraitser-Burn Syndrome

Ofd4

Mohr-Majewski Syndrome

Orofaciodigital Syndrome 4

Oral-Facial-Digital Syndrome, Type Iv

Oral-Facial-Digital Syndrome Type 4

Ofd Syndrome with Tibial Defects

Orofaciodigital Syndrome Type 4

Ofds Iv

Ofd Syndrome, Baraitser-Burn Type

Orofaciodigital Syndrome, Type Iv

Ofd Syndrome Baraitser-Burn Type

Oral-Facial-Digital Syndrome 4

Orofacial-Digital Syndrome Iv

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Iv, also known as baraitser-burn syndrome, is related to joubert syndrome 18 and orofaciodigital syndrome. An important gene associated with Orofaciodigital Syndrome Iv is TCTN3 (Tectonic Family Member 3), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include tongue and bone, and related phenotypes are intellectual disability and abnormality of eye movement

Related ID：

MALACARDS：ORF035

OMIM：258860

MESH：C537133