Short-rib thoracic dysplasia 10 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRTD10
Number of Symptoms 28
OrphanetNr:
OMIM Id: 615630
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:0012622) Chronic kidney disease 32 / 7739
2
 (HPO:0000090) Nephronophthisis 42 / 7739
3
 (HPO:0000202) Oral cleft rare [HPO:skoehler] 120 / 7739
4
 (HPO:0000657) Oculomotor apraxia rare [HPO:skoehler] 54 / 7739
5
 (HPO:0000662) Nyctalopia rare [HPO:skoehler] 92 / 7739
6
 (HPO:0000546) Retinal degeneration 61 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0000773) Short ribs 70 / 7739
9
 (HPO:0002857) Genu valgum rare [HPO:skoehler] 144 / 7739
10
 (HPO:0003026) Short long bone 51 / 7739
11
 (HPO:0001162) Postaxial hand polydactyly rare [HPO:skoehler] 119 / 7739
12
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
13
 (HPO:0006644) Thoracic dysplasia 12 / 7739
14
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
15
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
16
 (HPO:0001591) Bell-shaped thorax 35 / 7739
17
 (HPO:0001396) Cholestasis 136 / 7739
18
 (HPO:0001399) Hepatic failure 80 / 7739
19
 (HPO:0001395) Hepatic fibrosis 67 / 7739
20
 (HPO:0002240) Hepatomegaly 467 / 7739
21
 (HPO:0001744) Splenomegaly 337 / 7739
22
 (HPO:0004322) Short stature 1232 / 7739
23
 (HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
24
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
25
 (HPO:0000833) Glucose intolerance rare [HPO:skoehler] 20 / 7739
26
 (HPO:0001320) Cerebellar vermis hypoplasia rare [HPO:skoehler] 57 / 7739
27
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

IFT172;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: