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schizencephaly

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


Explore Associated Targets
Mondo Description Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Uniprot Description Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
Mondo Term and Equivalent IDs
MONDO:0010011:  schizencephaly
GARD:0000166: 
NCIT:C99056: 
Orphanet:799: 
SCTID:253159001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found