Corpus callosum agenesis - double urinary collecting system
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Ben Ari-Shuper-Mimouni syndrome
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Number of Symptoms
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14
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OrphanetNr:
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1492
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndrome with corpus callosum agenesis /dysgenesis as a major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
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1
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(HPO:0000069)
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Abnormality of the ureter |
Very frequent [Orphanet]
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47 / 7739
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2
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(HPO:0002162)
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Low posterior hairline |
Very frequent [Orphanet]
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88 / 7739
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3
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(HPO:0000582)
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Upslanted palpebral fissure |
Very frequent [Orphanet]
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185 / 7739
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4
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(HPO:0000243)
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Trigonocephaly |
Very frequent [Orphanet]
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40 / 7739
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5
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(HPO:0002002)
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Deep philtrum |
Very frequent [Orphanet]
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42 / 7739
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6
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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7
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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8
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(HPO:0009466)
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Radial deviation of finger |
Very frequent [Orphanet]
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101 / 7739
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9
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(HPO:0002967)
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Cubitus valgus |
Very frequent [Orphanet]
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49 / 7739
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10
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(HPO:0010769)
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Pilonidal sinus |
Very frequent [Orphanet]
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35 / 7739
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11
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(HPO:0004378)
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Abnormality of the anus |
Very frequent [Orphanet]
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34 / 7739
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12
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(HPO:0001608)
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Abnormality of the voice |
Very frequent [Orphanet]
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126 / 7739
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13
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
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180 / 7739
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14
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |