SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 600093
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:0000215) Thick upper lip vermilion 17 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
4
 (HPO:0000289) Broad philtrum 11 / 7739
5
 (HPO:0012471) Thick vermilion border 115 / 7739
6
 (HPO:0000431) Wide nasal bridge 290 / 7739
7
 (HPO:0000455) Broad nasal tip 67 / 7739
8
 (HPO:0000322) Short philtrum 130 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
11
 (HPO:0005715) Flattened knee epiphyses 1 / 7739
12
 (OMIM) Progressive narrowing of lumbar spinal interpedicular distance 1 / 7739
13
 (OMIM) Broad nasal root and tip 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Short broad philtrum 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: