Arboleda-Tham Syndrome (ARTHS)

Alias:

Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

Kat6a Syndrome

Arths

Mrd32

Autosomal Dominant Non-Syndromic Intellectual Disability 32

Mental Retardation, Autosomal Dominant 32, Formerly

Autosomal Dominant Mental Retardation 32

Mrd32, Formerly

Arboleda-Tham

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arboleda-Tham Syndrome, also known as autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, is related to hypotonia and microcephaly. An important gene associated with Arboleda-Tham Syndrome is KAT6A (Lysine Acetyltransferase 6A). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and abnormal facial shape

Related ID：

MALACARDS：ARB005

OMIM：616268

MESH：D008607