FRASER-LIKE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES
Number of Symptoms 11
OrphanetNr:
OMIM Id: 229230
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:0000138) Ovarian cyst 25 / 7739
2
 (HPO:0001845) Overlapping toe 18 / 7739
3
 (HPO:0009540) Contracture of the proximal interphalangeal joint of the 2nd finger 1 / 7739
4
 (HPO:0001607) Subglottic stenosis 5 / 7739
5
 (OMIM) Fused eyelids 2 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Craniofacial anomalies 2 / 7739
8
 (OMIM) Index finger metacarpophalangeal joints extended 1 / 7739
9
 (OMIM) Overlap of index finger over the third digit 1 / 7739
10
 (OMIM) Index finger proximal interphalangeal joints flexed 1 / 7739
11
 (OMIM) Overlap of second toe over the third 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: