MOVED TO 210600

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 608664
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.

Symptom Information: Sort by abundance 

1
 (HPO:0000444) Convex nasal ridge 87 / 7739
2
 (HPO:0000426) Prominent nasal bridge 121 / 7739
3
 (HPO:0003189) Long nose 20 / 7739
4
 (HPO:0000274) Small face 18 / 7739
5
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
6
 (HPO:0000324) Facial asymmetry rare [HPO:skoehler] 57 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: