Kleefstra Syndrome [Supplementary Concept]

Submicroscopic and subtelomeric deletions of the q region of chromosome 9 that result in severe intellectual disability, epilepsy, heart defects, BRACHYCEPHALY or MICROCEPHALY; MACROGLOSSIA and other craniofacial abnormalities. The symptoms are caused by deletion or mutation of the EHMT1 gene. OMIM: 610253

Date introduced: November 5, 2012

MeSH Unique ID: C563043

Heading Mapped to:

• Chromosome Deletion
• Chromosomes, Human, Pair 9
• Heart Defects, Congenital
• Intellectual Disability
• Craniofacial Abnormalities

Entry Terms:

• Chromosome 9q34.3 Deletion Syndrome
• 9q Subtelomeric Deletion Syndrome
• 9q- Syndrome
• 9q34.3 Deletion Syndrome
• 9q34.3 Microdeletion Syndrome