Orofaciodigital Syndrome Xviii (OFD18)

Alias:

Orofaciodigital Syndrome 18

Ofd18

Ofds Xviii

Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy

Oral-Facial-Digital Syndrome, Type Xviii

Oral-Facial-Digital Syndrome Type 18

Oral-Facial-Digital Syndrome Xviii

Orofaciodigital Syndrome Type 18

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Xviii, is also known as orofaciodigital syndrome 18. An important gene associated with Orofaciodigital Syndrome Xviii is IFT57 (Intraflagellar Transport 57). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and wide nasal bridge

Related ID：

MALACARDS：ORF052

OMIM：617927

MESH：D009958