1q44 microdeletion syndrome
MONDO:0016561Mondo
Findings
No curated finding names 1q44 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0016561), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Exaggerated cupid's bowHPOHP:0002263
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Show the remaining 21
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Smooth philtrumHPOHP:0000319
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: 1q44 microdeletion syndrome
- Also called
- Del(1)(q44)monosomy 1q44