16p13.11 microdeletion syndrome
MONDO:0016836Mondo
Findings
No curated finding names 16p13.11 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Definition from the Mondo Disease Ontology (MONDO:0016836), read 2026-09-29. CC BY 4.0.
Features
40 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Generalized-onset seizureHPOHP:0002197
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Occasional (5% to 29% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Occasional (5% to 29% of cases)
Show the remaining 28
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Cleft upper lipHPOHP:0000204
- Occasional (5% to 29% of cases)
- Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: 16p13.11 microdeletion syndrome
- Also called
- 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)Del(16)(p13.11)monosomy 16p13.11