Short stature - webbed neck - heart disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Al Gazali-Aziz-Salem syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 2865 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
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 |
Symptom Information:
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(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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