Microphthalmia, Syndromic 13 (MCOPS13)

Alias:

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome

Colobomatous Microphthalmia with Microcephaly, Short Stature, and Psychomotor Retardation

Maine Microphthalmos

Mcops13

Syndromic Microphthalmia 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome

Microphthalmia, Syndromic, Type 13

Microphthalmia, Syndromic, 13

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 13, also known as x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, is related to microphthalmia, syndromic 1 and microphthalmia. An important gene associated with Microphthalmia, Syndromic 13 is HMGB3 (High Mobility Group Box 3). Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and ptosis

Related ID：

MALACARDS：MCR228

OMIM：300915

MESH：D008850