chromosome 1q21.1 deletion syndrome
MONDO:0012914Mondo
Findings
No curated finding names chromosome 1q21.1 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Definition from the Mondo Disease Ontology (MONDO:0012914), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
HPO, annotations 2026-09-02
Features
119 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.
- Global developmental delayHPOHP:0001263
- 16 of 21 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 14 of 21 reported patients
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 2 of 21 reported patients
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- 2 of 21 reported patients
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
Show the remaining 107
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
- AnkyloglossiaHPOHP:0010296
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- AutismHPOHP:0000717
- 1 of 21 reported patients
- Occasional (5% to 29% of cases)
- Broad hallux phalanxHPOHP:0010059
Where it sits
- A kind of
Other names
5 names
Resolves to: chromosome 1q21.1 deletion syndrome
- Also called
- 1q21.1 microdeletion syndrome1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)chromosome 1q21.1 deletion syndrome, isolated casesDel(1)(q21)monosomy 1q21.1