Metaphyseal chondrodysplasia - retinitis pigmentosa

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 166035
OMIM Id: 250410
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple metaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
2
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
3
 (HPO:0010049) Short metacarpal 99 / 7739
4
 (HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
5
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
6
 (OMIM) Short terminal phalanges 5 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: