Triopia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 3374
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0100629) Midline facial cleft Very frequent [Orphanet] 3 / 7739
2
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
3
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
4
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
5
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
8
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
9
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
10
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
11
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
12
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
13
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
14
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
15
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
16
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
17
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
18
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
19
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: