Orofaciodigital Syndrome Ix (OFD9)

Alias:

Orofaciodigital Syndrome with Retinal Abnormalities

Ofd9

Oral-Facial-Digital Syndrome with Retinal Abnormalities

Oral-Facial-Digital Syndrome Type 9

Orofaciodigital Syndrome Type 9

Orofaciodigital Syndrome 9

Oral-Facial-Digital Syndrome, Type Ix

Orofaciodigital Syndrome, Type Ix

Ofds Ix

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Ix, also known as orofaciodigital syndrome with retinal abnormalities, is related to orofaciodigital syndrome and cleft palate, isolated. An important gene associated with Orofaciodigital Syndrome Ix is SCLT1 (Sodium Channel And Clathrin Linker 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 high palate and global developmental delay

Related ID：

MALACARDS：ORF043

OMIM：258865

MESH：C557818