GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Lethal Osteosclerotic Bone Dysplasia  
Disease Aliases (7)

Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis

Lethal osteosclerotic bone dysplasia

Osteosclerotic bone dysplasia, lethal

Raine syndrome; rns

Rns

Raine dysplasia

Raine syndrome

Associated Genes (1)
 

NCBI-RefSeq:  FAM20C   (FAM20C golgi associated secretory pathway kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Lethal osteosclerotic bone dysplasia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations