White matter hypoplasia - corpus callosum agenesis - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Curatolo-Cilio-Pessagno syndrome |
| Number of Symptoms | 16 |
| OrphanetNr: | 3207 |
| 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:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome with corpus callosum agenesis /dysgenesis as a major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000664) | Synophrys | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Very frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Occasional [Orphanet] | 103 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 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 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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