Chromosome 15q13.3 deletion syndrome

Preferred Label : Chromosome 15q13.3 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 15q13.3 microdeletion syndrome;

Description : Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).;

Prefixed ID : #612001;

Details

Origin ID

612001;

UMLS CUI

C2677613;

Currated CISMeF NLP mapping
- 15q13.3 deletion [ICD-11 More detail]
- 15q13.3 microdeletion syndrome [ORDO Disease]
- Microdeletion of chromosome 15q13.3 (disorder) [SNOMED CT concept]
- chromosome 15q13.3 deletion syndrome [Disease (Nov.)]
- chromosome 15q13.3 microdeletion syndrome [MeSH concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
DO Cross reference
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the palpebral fissures [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Epilepsy [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, moderate [HPO term]
- Intellectual disability, severe [HPO term]
- Seizure [HPO term]
- Specific learning disability [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
ORDO concept(s)
- 15q13.3 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 15q13.3 deletion [ICD-11 More detail]
- 15q13.3 microdeletion syndrome [ORDO Disease]
- Microdeletion of chromosome 15q13.3 (disorder) [SNOMED CT concept]
- chromosome 15q13.3 deletion syndrome [Disease (Nov.)]
- chromosome 15q13.3 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH concept]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]

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