Additional Disease Briefs

childhood onset GLUT1 deficiency syndrome 2

Also known as: DYT-SLC2A1, DYT18, GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome type 2, GLUT1DS2, PED, PxMD-SLC2A1, childhood onset GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome type 2, dystonia 18, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia, paroxysmal exercise-induced dystonia, paroxysmal exertion-induced dyskinesia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia, ped, ped with or without epilepsy and/or hemolytic Anaemia, ped with or without epilepsy and/or hemolytic Anemia

childhood testicular choriocarcinoma

Also known as: childhood choriocarcinoma of testis, childhood choriocarcinoma of the testis, childhood testicular choriocarcinoma, choriocarcinoma of testis of childhood, paediatric choriocarcinoma of testis, paediatric choriocarcinoma of the testis, paediatric testicular choriocarcinoma, pediatric choriocarcinoma of testis, pediatric choriocarcinoma of the testis, pediatric testicular choriocarcinoma

Childhood-onset ataxia, intention tremor, and hypotonia syndrome

Also known as: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, ATITHS

childhood-onset autosomal recessive myopathy with external ophthalmoplegia

childhood-onset benign chorea with striatal involvement

childhood-onset epilepsy syndrome

Also known as: childhood epilepsy syndrome, childhood-onset epilepsy syndrome, epilepsy syndrome of childhood, paediatric epilepsy syndrome, pediatric epilepsy syndrome

childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Also known as: CONDBA, UBTF-related disorder, neurodegeneration, childhood-onset, with brain atrophy

childhood-onset nemaline myopathy

Also known as: mild nemaline myopathy

childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

childhood-onset Steinert myotonic dystrophy

Also known as: Childhood-onset Steinert disease, Childhood-onset myotonic dystrophy type 1