chromosome 2q32-q33 deletion syndrome
Findings
No curated finding names chromosome 2q32-q33 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0012864), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
92 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.
- Anterior tibial bowingHPOHP:0006390
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient · Intermediate young adult onset
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Cleft palate
Show the remaining 80
- Frequent temper tantrumsHPOHP:0025161
- 1 of 1 reported patient
- Generalized osteoporosisHPOHP:0040160
- 1 of 1 reported patient
- Gingival overgrowthHPOHP:0000212
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Happy demeanorHPOHP:0040082
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
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.
- SATB2HGNC:21637
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: chromosome 2q32-q33 deletion syndrome
- Also called
- Del(2)(q32)Del(2)(q32q33)glass syndromemonosomy 2q32-q33monosomy 2q32q33