OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
166990
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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: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(OMIM) | Rhizomelic osteochondrodysplasia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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