Nathalie syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Deafness - cataracts - skeletal anomalies |
| Number of Symptoms | 11 |
| OrphanetNr: | 2663 |
| OMIM Id: |
255990
|
| ICD-10: |
Q87.8 |
| UMLs: |
C1850626 |
| MeSH: |
C538342 |
| 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: |
Syndromic cataract
-Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000119) | Abnormality of the genitourinary system | 34 / 7739 | ||||
|
|
(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0001510) | Growth delay | 295 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0011675) | Arrhythmia | Very frequent [Orphanet] | 226 / 7739 | |||
|
|
(HPO:0003115) | Abnormal EKG | 44 / 7739 | ||||
|
|
(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
|
|
(OMIM) | Sexual development retarded | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|