Endosteal sclerosis - cerebellar hypoplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 11 |
| OrphanetNr: | 85186 |
| OMIM Id: |
213002
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| ICD-10: |
Q87.8 |
| UMLs: |
C1859301 |
| MeSH: |
C535353 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a cerebellar malformation as major feature
-Rare genetic disease Primary bone dysplasia with increased bone density -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndrome with a cerebellar malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Endosteal sclerosis | 1 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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