Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a8

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Subtype of: Congenital muscular dystrophy due to dystroglycanopathy · Muscular dystrophy · Muscular dystrophy-dystroglycanopathy · Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8
MONDO_0000171MONDO_0013904
POMGNT2 Causal
22958903 27066570
Open Targets
All1 Causal1 Unknown1
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Myopathy caused by variation in POMGNT2 1 shared genePOMGNT2 Related via 1 shared gene including POMGNT2. Walker warberg spectrum disorder 1 shared genePOMGNT2 Related via 1 shared gene including POMGNT2. Muscle eye brain disease 1 shared genePOMGNT2 Related via 1 shared gene including POMGNT2. Walker-warburg syndrome 1 shared genePOMGNT2 Related via 1 shared gene including POMGNT2. Limb-girdle muscular dystrophy 1 shared genePOMGNT2 Related via 1 shared gene including POMGNT2.