Chromosome 3q29 deletion syndrome

Preferred Label : Chromosome 3q29 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microdeletion 3q29 syndrome;

Inheritance : Isolated cases;

Molecular basis : Caused by deletion of 1.5Mb on 3q29 encompassing 22 genes;

Laboratory abnormalities : Subtelomeric deletion of long arm of chromosome 3 (3q29);

Prefixed ID : #609425;

Détails

Origin ID

609425;

UMLS CUI

C2674949;

Currated CISMeF NLP mapping
- 3q29 deletion [ICD-11 More detail]
- 3q29 microdeletion syndrome [ORDO Disease]
- 3q29 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 3q29 deletion syndrome [MeSH concept]
- chromosome 3q29 deletion syndrome [MeSH Supplementary Concept]
- chromosome 3q29 microdeletion syndrome [DO Concept]
DO Cross reference
- chromosome 3q29 microdeletion syndrome [DO Concept]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Failure to thrive [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- High nasal bridge [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long fingers [HPO term]
- Long tapered fingers [HPO term]
- Long, narrow facies [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Psychosis [HPO term]
- Short philtrum [HPO term]
- Small for gestational age [HPO term]
- Sporadic [HPO term]
- Stereotypical motor behaviors [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- 3q29 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3q29 deletion [ICD-11 More detail]
- 3q29 microdeletion syndrome [ORDO Disease]
- 3q29 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 3q29 deletion syndrome [MeSH Supplementary Concept]
- chromosome 3q29 deletion syndrome [MeSH concept]

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