Basilicata-Akhtar Syndrome (MRXSBA)

Alias:

Mrxs36

Mrxsba

Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type

X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type

Mental Retardation, X-Linked, Syndromic 36

X-Linked Syndromic Mental Retardation 36

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Basilicata-Akhtar Syndrome, also known as mrxs36, is related to atrial septal defect 3 and biotin deficiency. An important gene associated with Basilicata-Akhtar Syndrome is MSL3 (MSL Complex Subunit 3), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：BSL048

OMIM：301032

MESH：D038901