Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b1

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Subtype of: Congenital muscular dystrophy due to dystroglycanopathy · Muscular dystrophy
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
MONDO_0013159
POMT1 Unknown
12369018 27421908 27604308
Open Targets
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b1.
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Myopathy caused by variation in POMT1 1 shared genePOMT1 Related via 1 shared gene including POMT1. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1 1 shared genePOMT1 Related via 1 shared gene including POMT1. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a 1 shared genePOMT1 Related via 1 shared gene including POMT1. Pyridoxine dependent epilepsy 1 shared genePOMT1 Related via 1 shared gene including POMT1. Sensory neuropathy 1 shared genePOMT1 Related via 1 shared gene including POMT1.