Craniotelencephalic dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 30 |
| OrphanetNr: | 1528 |
| OMIM Id: |
218670
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| ICD-10: |
Q04.3 |
| UMLs: |
C1857471 |
| MeSH: |
C535597 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Other syndrome with lissencephaly as a major feature
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0002084) | Encephalocele | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000601) | Hypotelorism | 83 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0007330) | Frontal encephalocele | 3 / 7739 | ||||
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(HPO:0000609) | Optic nerve hypoplasia | 26 / 7739 | ||||
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(HPO:0100842) | Septo-optic dysplasia | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(OMIM) | Frontal bone protrusion | 1 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0002139) | Arrhinencephaly | 13 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 | |||
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(OMIM) | Absent medullary pyramids | 1 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0001360) | Holoprosencephaly | 29 / 7739 | ||||
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(HPO:0001339) | Lissencephaly | 30 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0001331) | Absent septum pellucidum | 16 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Frequent [Orphanet] | 72 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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