CALVARIAL HYPEROSTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 302030
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004490) Calvarial hyperostosis 11 / 7739
2
 (HPO:0002516) Increased intracranial pressure 47 / 7739
3
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
 (HPO:0001417) X-linked inheritance 173 / 7739
5
 (OMIM) Vacuolated histiocytes on bone biopsy 1 / 7739
6
 (OMIM) No premature cranial suture closure 1 / 7739
7
 (OMIM) Exophytic frontoparietal bone prominences 1 / 7739
8
 (OMIM) Irregularity of calvaria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: