congenital muscular dystrophy 1B
Also known as: CMD1B, MDC1B, congenital muscular dystrophy type 1B, muscular dystrophy, congenital, 1B
Additional Disease Briefs
congenital muscular dystrophy due to integrin alpha-7 deficiency
Also known as: ITGA7 congenital muscular dystrophy, congenital muscular dystrophy caused by mutation in ITGA7, congenital muscular dystrophy with ITGA7 deficiency, congenital muscular dystrophy with integrin alpha-7 deficiency, congenital myopathy due to integrin alpha-7 deficiency, muscular dystrophy, congenital, due to ITGA7 deficiency, muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency, myopathy, congenital, due to integrin Alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
Also known as: L-CMD, LMNA congenital muscular dystrophy, LMNA-related congenital muscular dystrophy, MDCL, congenital muscular dystrophy LMNA-related, congenital muscular dystrophy caused by mutation in LMNA, muscular dystrophy Congenital, LMNA-related, muscular dystrophy, congenital, muscular dystrophy, congenital, LMNA-related
congenital muscular dystrophy with hyperlaxity
Also known as: CMDH
congenital muscular dystrophy with intellectual disability
Also known as: CMD with intellectual disability, CMD-MR
congenital muscular dystrophy with intellectual disability and severe epilepsy
Also known as: CDG Iu, CDG syndrome type Iu, CDG-Iu, CDG1U, CMD with intellectual disability and severe epilepsy, DPM2-CDG, carbohydrate deficient glycoprotein syndrome type Iu, congenital disorder of glycosylation type 1u, congenital disorder of glycosylation type Iu, congenital disorder of glycosylation, type Iu
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Also known as: Bassoe syndrome, benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, familial congenital muscular dystrophy with gonadal dysgenesis, muscular dystrophy, congenital, infantile with cataract and hypogonadism, muscular dystrophy, congenital, with infantile cataract and hypogonadism
congenital myasthenic syndrome 10
Also known as: CMS Ib, CMS10, CMS1B, Cms Ib, Cms Ib, formerly, DOK7 congenital myasthenic syndrome, LGM, congenital muscular dystrophy merosin-positive, congenital myasthenic syndrome 10, congenital myasthenic syndrome caused by mutation in DOK7, congenital myasthenic syndrome type 10, congenital myasthenic syndrome type IB, congenital myasthenic syndrome type IB, formerly, familial limb-girdle myasthenia, muscular dystrophy, congenital, merosin-POSITIVE, myasthenia, limb-girdle, familial, myasthenia, limb-girdle, familial, formerly, myasthenic myopathy, myasthenic myopathy, formerly, myasthenic syndrome, congenital, 10, myasthenic syndrome, congenital, type 10
congenital myasthenic syndrome 11
Also known as: CMS Ie, CMS11, CMS1E, Cms Ie, Cms Ie, formerly, RAPSN congenital myasthenic syndrome, congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency, congenital myasthenic syndrome 1e, congenital myasthenic syndrome caused by mutation in RAPSN, congenital myasthenic syndrome type 11, myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, myasthenic syndrome, congenital, Ie, myasthenic syndrome, congenital, Ie, formerly