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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease agenesis of corpus callosum
Comorbidity C0266463|lissencephaly
Sentences 2
PubMedID- 23622213 Additional forms are x-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the arx gene.
PubMedID- 26029707 Hence, it is not surprising that epilepsy and structural brain malformations including lissencephaly and agenesis of corpus callosum are frequently observed in patients with arx pathogenic mutations.

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