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periventricular nodular heterotopia 6

Disease Summary
Associated Targets (1)
Tdark

1


Mondo Description Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
Uniprot Description A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy.
Mondo Term and Equivalent IDs
MONDO:0014240:  periventricular nodular heterotopia 6
UMLS:C3809872: