|
Amblyopia
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Congenital muscular dystrophy (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
|
26310427 |
2015 |
|
Delayed speech and language development
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Dysmorphic facies
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Esotropia
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
|
24780531 |
2014 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
|
24780531 |
2014 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
|
24780531 |
2014 |