Baralle-Macken Syndrome (BARMACS)

Alias:

Neurodevelopmental Disorder with Cataracts and Variable Microcephaly

Barmacs

Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Baralle-Macken Syndrome, is also known as neurodevelopmental disorder with cataracts and variable microcephaly. An important gene associated with Baralle-Macken Syndrome is COPB1 (COPI Coat Complex Subunit Beta 1). Affiliated tissues include eye and t cells, and related phenotypes are cataract and neonatal hypotonia

Related ID：

MALACARDS：BRL013

OMIM：619255

MESH：D065886