Microphthalmia - microtia - fetal akinesia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 2547
OMIM Id:
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:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
8
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
9
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
10
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
11
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
12
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
13
 (HPO:0100867) Duodenal stenosis Frequent [Orphanet] 29 / 7739
14
 (HPO:0001643) Patent ductus arteriosus Very frequent [Orphanet] 228 / 7739
15
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: