Cleft lip - retinopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Ausems-Wittebol Post-Hennekam syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 1995 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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