Neurodevelopmental disorder with microcephaly and seizures

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Subtype of: Neurodevelopmental disorder
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
neurodevelopmental disorder with microcephaly and seizures
MONDO_0859252
PCDHGC4 Unknown
34244665
Open Targets —
neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome)
MONDO_0971172
RNU4-2 Unknown
38821540 38991538 39369315 39434505 40011755 40379786
Open Targets
neurodevelopmental disorder with seizures and microcephaly
MONDO_0859250
CPSF3 Unknown
35121750
Open Targets
All3 Causal0 Unknown3
Related Diseases Diseases that share the most curated genes with Neurodevelopmental disorder with microcephaly and seizures.
5 View disease cluster →
Neurodevelopmental disorder with poor growth and skeletal anomalies 1 shared genePCDHGC4 Related via 1 shared gene including PCDHGC4. Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 shared geneRNU4-2 Related via 1 shared gene including RNU4-2. Neurodevelopmental disorder with distinct white matter changes 1 shared geneRNU4-2 Related via 1 shared gene including RNU4-2. Renu syndrome 1 shared geneRNU4-2 Related via 1 shared gene including RNU4-2. Non-specific syndromic intellectual disability 2 shared genesCPSF3, PCDHGC4 Related via 2 shared genes including CPSF3, PCDHGC4.