Osteochondrodysplatic nanism - deafness - retinitis pigmentosa

General Information (adopted from Orphanet):

Synonyms, Signs: Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa
Number of Symptoms 15
OrphanetNr: 2653
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
2
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
4
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
5
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
6
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
7
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
8
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
9
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
10
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
11
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
12
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
13
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: