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X-linked complicated corpus callosum dysgenesis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
Uniprot Description A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.
Mondo Term and Equivalent IDs
MONDO:0010569:  X-linked complicated corpus callosum dysgenesis
GARD:0012526: 
MESH:C564115: 
Orphanet:1497: 
UMLS:C1839909: