Name Cole-Carpenter Syndrome 1
Synonyms BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES
Classification bone, developmental, eye, genetic
Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures
Associated Genes P4HB (Withdrawn symbols: DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PO4DB, PO4HB, PROHB )
Mouse Orthologs P4hb (Withdrawn symbols: Thbp )
Source
OMIM:112240 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)