Short-rib thoracic dysplasia 11 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRTD11
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615633
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:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
2
 (HPO:0000121) Nephrocalcinosis rare [HPO:skoehler] 57 / 7739
3
 (HPO:0000510) Rod-cone dystrophy rare [HPO:skoehler] 266 / 7739
4
 (HPO:0000750) Delayed speech and language development rare [HPO:skoehler] 197 / 7739
5
 (HPO:0003026) Short long bone 51 / 7739
6
 (HPO:0006644) Thoracic dysplasia 12 / 7739
7
 (HPO:0001591) Bell-shaped thorax 35 / 7739
8
 (HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
9
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
10
 (HPO:0000774) Narrow chest 167 / 7739
11
 (HPO:0000888) Horizontal ribs 12 / 7739
12
 (HPO:0001561) Polyhydramnios rare [HPO:skoehler] 191 / 7739
13
 (HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
14
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
15
 (HPO:0002093) Respiratory insufficiency 410 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

WDR34;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: