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lissencephaly type 1 due to doublecortin gene mutation

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.
Uniprot Description SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.
Mondo Term and Equivalent IDs
MONDO:0010239:  lissencephaly type 1 due to doublecortin gene mutation
GARD:0006914: 
Orphanet:2148: 
SCTID:715780008: 
UMLS:C1848199: 
UMLS:C4275012: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found