Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

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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 hypotonia, dysmorphic facies, and skin abnormalities
MONDO_0859347
PGM2L1 Causal
33979636
Open Targets
All1 Causal1 Unknown0
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Non-specific syndromic intellectual disability 1 shared genePGM2L1 Related via 1 shared gene including PGM2L1. Neurodevelopmental disorder 1 shared genePGM2L1 Related via 1 shared gene including PGM2L1.