craniotelencephalic dysplasia https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia https://www.malacards.org/card/craniotelencephalic_dysplasia MEDGEN:347462 GARD:0001605 MESH:C535597 Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. Complex of anomalies involving the cranium and brain SCTID:715422002 Orphanet:1528 UMLS:C1857471 craniotelencephalic dysplasia MONDO:0009042 icd11.foundation:1684038717 OMIM:218670 syndromic craniosynostosis lissencephaly spectrum disorders