Hernandez-Aguirre Negrete syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Intellectual deficit - epilepsy - bulbous nose |
| Number of Symptoms | 10 |
| OrphanetNr: | 2139 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| UMLs: |
C2931736 |
| MeSH: |
C538112 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [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:0000154) | Wide mouth | Very frequent [Orphanet] | 137 / 7739 | |||
|
|
(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
|
|
(HPO:0002002) | Deep philtrum | Very frequent [Orphanet] | 42 / 7739 | |||
|
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(HPO:0000311) | Round face | Very frequent [Orphanet] | 104 / 7739 | |||
|
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
|
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
|
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 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 |
|---|