BRACHYMESOMELIA-RENAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 113470
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000581) Blepharophimosis 197 / 7739
5
 (HPO:0007957) Corneal opacity 84 / 7739
6
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0003038) Fibular hypoplasia 30 / 7739
9
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
10
 (HPO:0000954) Single transverse palmar crease 162 / 7739
11
 (HPO:0003031) Ulnar bowing 16 / 7739
12
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
13
 (HPO:0000965) Cutis marmorata 46 / 7739
14
 (HPO:0003745) Sporadic 131 / 7739
15
 (HPO:0012745) Short palpebral fissure 47 / 7739
16
 (OMIM) Lateral bowing proximal femur 1 / 7739
17
 (OMIM) Short, thin fibulae 1 / 7739
18
 (OMIM) Lateral bowing distal tibiae 1 / 7739
19
 (OMIM) Short, broad, radially bowed ulnae 1 / 7739
20
 (OMIM) Glomerulocystic dysplasia 1 / 7739
21
 (OMIM) Prominent lobules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: