Short-rib thoracic dysplasia 13 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRTD13
Number of Symptoms 23
OrphanetNr:
OMIM Id: 616300
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:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000062) Ambiguous genitalia 74 / 7739
4
 (HPO:0011315) Unicoronal synostosis 1 / 7739
5
 (HPO:0000448) Prominent nose 56 / 7739
6
 (HPO:0000695) Natal tooth 42 / 7739
7
 (HPO:0011800) Midface retrusion 221 / 7739
8
 (HPO:0004482) Relative macrocephaly 44 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0000280) Coarse facial features 189 / 7739
11
 (HPO:0000308) Microretrognathia 78 / 7739
12
 (HPO:0000400) Macrotia 108 / 7739
13
 (HPO:0001591) Bell-shaped thorax 35 / 7739
14
 (HPO:0000773) Short ribs 70 / 7739
15
 (HPO:0100258) Preaxial polydactyly 39 / 7739
16
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
17
 (HPO:0003180) Flat acetabular roof 25 / 7739
18
 (HPO:0000888) Horizontal ribs 12 / 7739
19
 (HPO:0000774) Narrow chest 167 / 7739
20
 (HPO:0001539) Omphalocele 102 / 7739
21
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
22
 (HPO:0002093) Respiratory insufficiency 410 / 7739
23
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739

Associated genes:

CEP120;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: