OROFACIODIGITAL SYNDROME XIV

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615948
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
3
 (HPO:0000243) Trigonocephaly 40 / 7739
4
 (HPO:0000506) Telecanthus 156 / 7739
5
 (HPO:0000180) Lobulated tongue 8 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0011069) Increased number of teeth 39 / 7739
8
 (HPO:0001999) Abnormal facial shape 169 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001344) Absent speech 57 / 7739
12
 (HPO:0100259) Postaxial polydactyly 85 / 7739
13
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
14
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: