Joubert syndrome 22
General Information (adopted from Orphanet):
| Synonyms, Signs: |
JBTS22 |
| Number of Symptoms | 11 |
| OrphanetNr: | |
| OMIM Id: |
615665
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family - PMID: 24166846 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 24166846 [IBIS] |
| Age of onset: |
Antenatal - PMID: 24166846 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Joubert syndrome with orofaciodigital defect
-Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare maxillo-facial surgical disease -Rare neurologic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000568) | Microphthalmia | 24166846 | IBIS | 183 / 7739 | ||
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(HPO:0000550) | Undetectable electroretinogram | 24166846 | IBIS | 25 / 7739 | ||
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(HPO:0007973) | Retinal dysplasia | 24166846 | IBIS | 27 / 7739 | ||
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(HPO:0000589) | Coloboma | 24166846 | IBIS | 47 / 7739 | ||
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(HPO:0001511) | Intrauterine growth retardation | 24166846 | IBIS | 358 / 7739 | ||
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(HPO:0001830) | Postaxial foot polydactyly | 24166846 | IBIS | 37 / 7739 | ||
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(HPO:0010442) | Polydactyly | 24166846 | IBIS | 69 / 7739 | ||
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(HPO:0001159) | Syndactyly | 24166846 | IBIS | 140 / 7739 | ||
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(HPO:0001999) | Abnormal facial shape | 24166846 | IBIS | 169 / 7739 | ||
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(HPO:0000089) | Renal hypoplasia | 24166846 | IBIS | 78 / 7739 | ||
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(HPO:0002419) | Molar tooth sign on MRI | 24166846 | IBIS | 27 / 7739 |
Associated genes:
| PDE6D; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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