MAXILLOFACIAL DYSOSTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 155000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000377) Abnormality of the pinna 111 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Severe speech delay 4 / 7739
7
 (OMIM) Anterior-posterior shortening of the maxilla 1 / 7739
8
 (OMIM) Nonfluent and inarticulate speech 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: