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GTR Home > Conditions/Phenotypes > Chromosome 15q13.3 microdeletion syndrome

Chromosome 15q13.3 microdeletion syndrome

Synonyms
15q13.3 Microdeletion; 15q13.3 microdeletion syndrome; CHROMOSOME 15q13.3 DELETION SYNDROME
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: 15q13.3 Recurrent Deletion
Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. In the majority of individuals, cognitive impairment is mild. Other features reported in diagnosed individuals include epilepsy (in ~30%), mild hypotonia, and neuropsychiatric disorders (including autism spectrum disorder, attention-deficit/hyperactivity disorder, mood disorder, schizophrenia, and aggressive or self-injurious behavior). Congenital malformations are uncommon.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bregje WM van Bon
Heather C Mefford
Bert BA de Vries
view full author information

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHRNA7-2, NACHRA7, CHRNA7
    Summary: cholinergic receptor nicotinic alpha 7 subunit

  • Also known as: BTEB3, FKLF2, NSLP1, RFLAT-1, RFLAT1, KLF13
    Summary: KLF transcription factor 13

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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