Microcephaly - seizures - intellectual deficit - heart disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 22 |
| OrphanetNr: | 2519 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
C2931529 |
| MeSH: |
C537544 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 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:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0005989) | Redundant neck skin | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0009896) | Abnormality of the antitragus | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002558) | Supernumerary nipple | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000921) | Missing ribs | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0012303) | Abnormality of the aortic arch | Very frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Very frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Very frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Very frequent [Orphanet] | 180 / 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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