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Ontology Browser

Term:
Complex Cortical Dysplasia with Other Brain Malformations 9 (DOID:9001005)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
Abnormal Cortical Gyration  
autosomal dominant intellectual developmental disorder 13  
CK syndrome  
complex cortical dysplasia with other brain malformations 1  
Complex Cortical Dysplasia with Other Brain Malformations 10  
Complex Cortical Dysplasia with Other Brain Malformations 11  
Complex Cortical Dysplasia with Other Brain Malformations 12  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
Complex Cortical Dysplasia with Other Brain Malformations 9  
A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum.
Curatolo Cilio Pessagno Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Malformations of Cortical Development, Group I +   
Malformations of Cortical Development, Group II +   
Malformations of Cortical Development, Group III +   
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Muller Barth Menger Syndrome 
Non-Lissencephalic Cortical Dysplasia 
Occipital Cortical Malformations  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Polymicrogyria with Optic Nerve Hypoplasia  
Schizencephaly  

Synonyms
Exact Synonyms: CDCBM9 ;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
Primary IDs: OMIM:618174
Definition Sources: OMIM:618174

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