Lethal chondrodysplasia, Seller type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 1421
OMIM Id: 601376
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: Lethal chondrodysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005623) Absent ossification of calvaria 2 / 7739
2
 (HPO:0005787) Lumbar platyspondyly 1 / 7739
3
 (HPO:0003038) Fibular hypoplasia 30 / 7739
4
 (HPO:0005736) Short tibia 19 / 7739
5
 (HPO:0003097) Short femur 13 / 7739
6
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
7
 (HPO:0005825) Mixed sclerosis of humeral metaphyses 1 / 7739
8
 (HPO:0005885) Absent ossification of cervical vertebral bodies 1 / 7739
9
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
10
 (HPO:0003930) Lytic defects of humeral diaphysis 1 / 7739
11
 (HPO:0003811) Neonatal death 44 / 7739
12
 (OMIM) Short angulated ulnae, radii, femora, tibiae, and fibulae 1 / 7739
13
 (HPO:0012792) Absent ossification of thoracic vertebral bodies 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Sclerosis of scapulae and iliac bones 1 / 7739
16
 (OMIM) Lethal chondrodysplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: