GenTIGSA Gene Database on Rare Genetic Disorders
3M Syndrome 2  
Disease Aliases (26)

3-m syndrome

3-m syndrome, cul7-related

3-m syndrome caused by mutation in cul7

3-msbn

3@m syndrome

3m syndrome 1

3m1

Cul7 3-m syndrome

Dolichospondylic dysplasia

Dwarfism tall vertebrae

Dwarfism with disproportionately high vertebral bodies

Gloomy face syndrome

Le merrer syndrome

Miller-mckusick-malvaux syndrome

Miller-mckusick-malvaux-syndrome

Miller-mckusick-malvaux-syndrome (3m syndrome)

Short stature and tall vertebrae

Three m syndrome

Three m syndrome 1

Three-m slender-boned nanism

Yakut short stature syndrome

Dwarfism with tall vertebrae

Gloomy face syndrome yakut short stature syndrome, included

Three m syndrome 1; 3m1

Three m syndrome type 1

Associated Genes (3)
 

NCBI-RefSeq:  OBSL1   (Obscurin like cytoskeletal adaptor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CCDC8   (Coiled-coil domain containing 8)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CUL7   (Cullin 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of 3M syndrome 2 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations