Coffin-Siris Syndrome 3 (CSS3)

Alias:

Mrd15

Css3

Mental Retardation, Autosomal Dominant 15

Intellectual Disability, Autosomal Dominant 15

Autosomal Dominant Mental Retardation 15

Coffin-Siris Syndrome, Type 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coffin-Siris Syndrome 3, also known as mrd15, is related to coffin-siris syndrome 2 and hypothyroidism, congenital, nongoitrous, 2, and has symptoms including seizures An important gene associated with Coffin-Siris Syndrome 3 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). Affiliated tissues include brain and heart, and related phenotypes are high palate and hypotonia

Related ID：

MALACARDS：CFF010

OMIM：614608

MESH：D000015