CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
4
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
216330
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
2
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
3
|
(OMIM)
|
Spinal anomalies |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Aplasia of clavicle |
|
|
|
|
2 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |