Ohdo Syndrome, X-Linked (OHDOX)

Alias:

Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type

Blepharophimosis - Intellectual Disability Syndrome, Mkb Type

Ohdo Syndrome, Maat-Kievit-Brunner Type

X-Linked Ohdo Syndrome

Bmrs, Mkb Type

Ohdox

Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner Type

Blepharophimosis-Intellectual Disability Syndrome, Mkb Type

Ohdo Syndrome Maat-Kievit-Brunner Type

Bmrs, Maat-Kievit-Brunner Type

Ohdo Syndrome, Mkb Type

Ohdo Syndrome Mkb Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ohdo Syndrome, X-Linked, also known as blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, is related to ohdo syndrome and blepharophimosis. An important gene associated with Ohdo Syndrome, X-Linked is MED12 (Mediator Complex Subunit 12). Affiliated tissues include eye, and related phenotypes are intellectual disability and coarse facial features

Related ID：

MALACARDS：OHD003

OMIM：300895

MESH：D001763