chromosome 2p16.3 deletion syndrome
MONDO:0013696Mondo
Findings
No curated finding names chromosome 2p16.3 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
106 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 2 of 2 reported patients
- 2-4 finger cutaneous syndactylyHPOHP:0010709
- 1 of 1 reported patient
- 2-5 finger cutaneous syndactylyHPOHP:0005650
- 1 of 1 reported patient
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- AsthmaHPOHP:0002099
- 4 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 3 reported patients
- Bipolar affective disorderHPOHP:0007302
- 1 of 1 reported patient
- Chronic lung diseaseHPOHP:0006528
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 3 of 3 reported patients
Show the remaining 94
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Diastasis rectiHPOHP:0001540
- 1 of 1 reported patient
- Expressive language delayHPOHP:0002474
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient
- Frequent temper tantrumsHPOHP:0025161
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:8008HGNC:8008
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: chromosome 2p16.3 deletion syndrome
- Also called
- schizophrenia, susceptibility to, 17