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:- 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
Check Related conditions for additional relevant tests.
Clinical tests (16 available)
Cytogenetics Tests
Clinical features
Help- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormality of the palpebral fissures
Abnormality of the palpebral fissures
- MedGen UID: 870308
- Concept ID: C4024750
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
Abnormal cardiovascular system morphology
- MedGen UID: 892473
- Concept ID: C4049796
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Synophrys
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Atypical behavior
Atypical behavior
- MedGen UID: 14048
- Concept ID: C0004941
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, moderate
Intellectual disability, moderate
- MedGen UID: 7680
- Concept ID: C0026351
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Atypical behavior
- Ear malformation
- Abnormal pinna morphology
Abnormal pinna morphology
- MedGen UID: 167800
- Concept ID: C0857379
- Finding: Congenital Abnormality
Ear malformation
- Abnormal pinna morphology
- Lowther et al., 2015Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
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