DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 221950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000528) Anophthalmia 42 / 7739
2
 (HPO:0000568) Microphthalmia 183 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000340) Sloping forehead 86 / 7739
6
 (HPO:0000448) Prominent nose 56 / 7739
7
 (HPO:0001999) Abnormal facial shape 169 / 7739
8
 (HPO:0000400) Macrotia 108 / 7739
9
 (HPO:0001266) Choreoathetosis 57 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
12
 (HPO:0005815) Supernumerary ribs 9 / 7739
13
 (HPO:0001651) Dextrocardia 38 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Vertebral fusion defects 1 / 7739
16
 (OMIM) Plantar folding 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: