Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital muscular dystrophy
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy due to LMNA mutation
Autosomal dominant
Infancy, Neonatal
Congenital muscular dystrophy type 1B
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy with cerebellar involvement
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy with hyperlaxity
Neonatal
Congenital muscular dystrophy with integrin alpha-7 deficiency
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy with intellectual disability
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy without intellectual disability
Autosomal recessive
Infancy, Neonatal
Congenital muscular dystrophy, Fukuyama type
Autosomal recessive
Infancy
Congenital muscular dystrophy-cataract-intellectual disability syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Autosomal recessive
Neonatal
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Autosomal recessive
Neonatal
Congenital myasthenic syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Congenital myasthenic syndrome due to a sodium channel 1.4 defect
Autosomal recessive
Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
Autosomal dominant, Autosomal recessive
Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine
Autosomal recessive
Congenital myasthenic syndrome with glycosylation defect
Autosomal recessive
Infancy, Neonatal
Congenital myasthenic syndrome with kinetic defect
Autosomal dominant, Autosomal recessive
Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance
Autosomal recessive
Congenital myasthenic syndromes due to defective axonal transport
Autosomal recessive
Congenital myopathy
Congenital myopathy with excess of thin filaments
Autosomal dominant
Congenital myopathy with internal nuclei and atypical cores
Autosomal dominant
Neonatal