Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia

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Subtype of: Neurodevelopmental disorder · Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
MONDO_0859137
MED27 Causal
33443317
ClinGen, Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia.
5 View disease cluster →
Axial hypotonia 1 shared geneMED27 Related via 1 shared gene including MED27. Spasticity 1 shared geneMED27 Related via 1 shared gene including MED27. Cerebellar hypoplasia 1 shared geneMED27 Related via 1 shared gene including MED27. Dystonia 1 shared geneMED27 Related via 1 shared gene including MED27. Cataract 1 shared geneMED27 Related via 1 shared gene including MED27.