MeSH Browser

MeSH Supplementary: Chromosome 15q13.3 Microdeletion Syndrome
Unique ID: C567439
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C567439
Entry Term(s): 15q13.3 Microdeletion; 15q13.3 Microdeletion Syndrome; Chromosome 15q13.3 Deletion Syndrome; Microdeletion 15q13.3 Syndrome
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 15; *Intellectual Disability; *Seizures; *Chromosome Disorders
Frequency: 45
Note: Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype. Individuals with the deletion may have mild to moderate INTELLECTUAL DISABILITY or learning difficulties, or may have no cognitive deficits. Some individuals have EPILEPSY and dysmorphic features may occur, but there is no consistent or recognizable phenotype. Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, MUSCLE HYPOTONIA, and poor growth. OMIM: 612001
Date of Entry: 2012/11/05
Revision Date: 2015/11/10

Chromosome 15q13.3 Microdeletion Syndrome MeSH Supplementary Concept Data 2024