3M syndrome 2
MONDO:0013039Mondo
Findings
No curated finding names 3M syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013039), read 2026-09-29. CC BY 4.0.
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
26 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.
- Anteverted naresHPOHP:0000463
- 9 of 9 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 8 of 8 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- J-shaped sella turcicaHPOHP:0002680
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 1 reported patient
- Malar flatteningHPOHP:0000272
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Prominent calcaneusHPOHP:0012428
- 8 of 8 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
Show the remaining 14
- Prominent nasal tipHPOHP:0005274
- 2 of 2 reported patients
- Severe short statureHPOHP:0003510
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Triangular faceHPOHP:0000325
- 9 of 10 reported patients
- HyperlordosisHPOHP:0003307
- 8 of 9 reported patients
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.
- OBSL1HGNC:29092
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: 3M syndrome 2
- Also called
- 3-M syndrome 23-M syndrome caused by mutation in OBSL1OBSL1 3-M syndromethree M syndrome 2three M syndrome type 2