GenTIGSA Gene Database on Rare Genetic Disorders
Coffin-Lowry Syndrome  
Disease Aliases (14)

Cls

Cls - coffin-lowry syndrome

Coffin-lowry syndrome, mild

Coffin-lowry syndrome; cls

Coffin lowry syndrome

Coffin syndrome

Coffin syndrome 1

Coffin-lowry syndrome

Dwarfism, lean spastic type

Lean spastic dwarfism

Mental retardation with osteocartilaginous abnormalities

Syndrome, coffin

Syndrome, coffin-lowry

Intellectual disability with osteocartilaginous abnormalities

Associated Genes (1)
 

NCBI-RefSeq:  RPS6KA3   (Ribosomal protein S6 kinase A3)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Coffin-Lowry syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations