Orofaciodigital Syndrome Iii (OFD3)

Alias:

Sugarman Syndrome

Ofd3

Oral-Facial-Digital Syndrome Type 3

Orofaciodigital Syndrome Type 3

Orofaciodigital Syndrome 3

Oral-Facial-Digital Syndrome, Type Iii

Oral Facial Digital Syndrome Type 3

Orofacial-Digital Syndrome Iii

Ofds Iii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Iii, also known as sugarman syndrome, is related to sugarman brachydactyly and polydactyly, and has symptoms including myoclonus An important gene associated with Orofaciodigital Syndrome Iii is TMEM231 (Transmembrane Protein 231), and among its related pathways/superpathways are Signaling by Hedgehog and Bardet-Biedl syndrome. Affiliated tissues include eye and bone, and related phenotypes are spasticity and hypertelorism

Related ID：

MALACARDS：ORF038

OMIM：258850

MESH：C557817