Embryonary disorganization syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 1664
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:0000795) Abnormality of the urethra Very frequent [Orphanet] 38 / 7739
3
 (HPO:0002084) Encephalocele Frequent [Orphanet] 70 / 7739
4
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
5
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
6
 (HPO:0009756) Popliteal pterygium Frequent [Orphanet] 9 / 7739
7
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
8
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
9
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
10
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
11
 (HPO:0009775) Amniotic constriction ring Frequent [Orphanet] 21 / 7739
12
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
13
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
14
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
15
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: