CEREBELLOFACIODENTAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 616202
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
4
 (HPO:0000689) Dental malocclusion 114 / 7739
5
 (HPO:0000679) Taurodontia 27 / 7739
6
 (HPO:0000675) Macrodontia of permanent maxillary central incisor 7 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0003100) Slender long bone 45 / 7739
11
 (HPO:0002650) Scoliosis 705 / 7739
12
 (HPO:0001182) Tapered finger 93 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0008070) Sparse hair 94 / 7739
15
 (HPO:0001601) Laryngomalacia rare [HPO:skoehler] 61 / 7739
16
 (HPO:0006511) Laryngeal stridor rare [HPO:skoehler] 6 / 7739
17
 (HPO:0012110) Hypoplasia of the pons rare [HPO:skoehler] 16 / 7739
18
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: