9q21.13 microdeletion syndrome
Findings
No curated finding names 9q21.13 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
Definition from the Mondo Disease Ontology (MONDO:0035173), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal heart morphologyHPOHP:0001627
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Gastrointestinal dysmotilityHPOHP:0002579
- Very frequent (80% to 99% of cases)
- HydronephrosisHPOHP:0000126
- Very frequent (80% to 99% of cases)
- Abnormal tongue morphologyHPOHP:0030809
- Frequent (30% to 79% of cases)
Show the remaining 12
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- TalipesHPOHP:0001883
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
- Wide nasal ridgeHPOHP:0012811
- Frequent (30% to 79% of cases)
Where it sits
- A kind of