Caudal appendage - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lynch-Lee-Murday syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 1123 |
| OMIM Id: |
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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: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000154) | Wide mouth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000540) | Hypermetropia | Frequent [Orphanet] | 99 / 7739 | |||
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(HPO:0000483) | Astigmatism | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0001622) | Premature birth | Frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0012905) | Euryblepharon | Very frequent [Orphanet] | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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