THREE M SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: M SYNDROME 2
3&#64
3M2
Number of Symptoms 17
OrphanetNr:
OMIM Id: 612921
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000463) Anteverted nares 8/8 [HPO:probinson] 19481195 IBIS 305 / 7739
2
(HPO:0012471) Thick vermilion border 6/8 [HPO:probinson] 115 / 7739
3
(HPO:0000343) Long philtrum 5/8 [HPO:probinson] 262 / 7739
4
(HPO:0000307) Pointed chin 7/8 [HPO:probinson] 45 / 7739
5
(HPO:0005274) Prominent nasal tip 6 / 7739
6
(HPO:0000325) Triangular face 7/8 [HPO:probinson] 91 / 7739
7
(HPO:0000272) Malar flattening 277 / 7739
8
(HPO:0000470) Short neck 5/8 [HPO:probinson] 345 / 7739
9
(HPO:0002007) Frontal bossing 8/8 [HPO:probinson] 19481195 IBIS 366 / 7739
10
(HPO:0000268) Dolichocephaly 7/8 [HPO:probinson] 144 / 7739
11
(HPO:0000411) Protruding ear 5/8 [HPO:probinson] 140 / 7739
12
(HPO:0012428) Prominent calcaneus 8/8 [HPO:probinson] 1 / 7739
13
(HPO:0003307) Hyperlordosis 7/8 [HPO:probinson] 122 / 7739
14
(HPO:0003100) Slender long bone 4/8 [HPO:probinson] 45 / 7739
15
(HPO:0003691) Scapular winging 2/8 [HPO:probinson] 51 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hanson et al. (2009) ascertained 10 probands with the 3M syndrome phenotype in whom direct DNA sequencing failed to detect mutations in the CUL7 gene (609577). All patients had short stature, prominent heels, and a distinctive facial appearance ...
Molecular genetics OMIM By genomewide linkage analysis, followed by candidate gene sequencing of 10 unrelated families with 3M syndrome-2, Hanson et al. (2009) identified homozygous or compound heterozygous mutations in the OBSL1 gene (see, e.g., 610991.0001-610991.0005) in affected individuals. All of ...