chromosome 3q13.31 deletion syndrome
Findings
No curated finding names chromosome 3q13.31 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
Definition from the Mondo Disease Ontology (MONDO:0014185), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short philtrumHPOHP:0000322
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 19 of 21 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 15 of 17 reported patients
- Abnormal cranial suture/fontanelle morphologyHPOHP:0000235
- Very frequent (80% to 99% of cases)
- Abnormality of the handHPOHP:0001155
- Very frequent (80% to 99% of cases)
- Abnormality of the urinary system
Where it sits
Other names
3 names
Resolves to: chromosome 3q13.31 deletion syndrome
- Also called
- 3q13 microdeletion syndromeDel(3)(q13)monosomy 3q13