Ohdo Syndrome

Alias:

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo Blepharophimosis Syndrome

Ohdo-Madokoro-Sonoda Syndrome

Bmrs, Ohdo Type

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ohdo Syndrome, also known as blepharophimosis syndrome ohdo type, is related to ohdo syndrome, sbbys variant and blepharophimosis, and has symptoms including seizures An important gene associated with Ohdo Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are Chromatin organization and PPARA activates gene expression. Affiliated tissues include heart and eye, and related phenotypes are ptosis and hearing impairment

Related ID：

MALACARDS：OHD004

OMIM：249620

MESH：C536232