3M syndrome 1
MONDO:0010117Mondo
Findings
No curated finding names 3M syndrome 1 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 CUL7 gene.
Definition from the Mondo Disease Ontology (MONDO:0010117), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
30 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
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
Show the remaining 18
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 2 of 2 reported patients
- Proportionate short statureHPOHP:0003508
- 1 of 1 reported patient
- Relative macrocephalyHPOHP:0004482
- 2 of 2 reported patients
- Schmorl's nodeHPOHP:0030041
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 2 of 2 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.
- CUL7HGNC:21024
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
5 names
Resolves to: 3M syndrome 1
- Also called
- 3-M syndrome 13-M syndrome caused by mutation in CUL7CUL7 3-M syndromethree M syndrome 1three M syndrome type 1