mosaic variegated aneuploidy syndrome 2
Findings
No curated finding names mosaic variegated aneuploidy syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.
Definition from the Mondo Disease Ontology (MONDO:0013582), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
47 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.
- Aortic regurgitationHPOHP:0001659
- 1 of 1 reported patient
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- Delayed skeletal maturationHPO
Show the remaining 35
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Long faceHPOHP:0000276
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 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.
- CEP57HGNC:30794
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: mosaic variegated aneuploidy syndrome 2
- Also called
- CEP57 mosaic variegated aneuploidy syndromemosaic variegated aneuploidy syndrome caused by mutation in CEP57Mosaic variegated aneuploidy syndrome type 2