Additional Disease Briefs

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multisystemic smooth muscle dysfunction syndrome

Also known as: congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy, multisystemic smooth muscle dysfunction syndrome, mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy


muscle-eye-brain disease

Also known as: MEB, MEB syndrome, Santavuori congenital muscular dystrophy, muscle eye brain disease, muscle-eye-brain syndrome, muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3




muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

Also known as: MDDGA10, RXYLT1 muscular dystrophy-dystroglycanopathy, type A, Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10, muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

Also known as: B3GALNT2 muscular dystrophy-dystroglycanopathy, type A, MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Also known as: MDDGA12, POMK muscular dystrophy-dystroglycanopathy, type A, Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK