Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 11
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Autosomal recessive spastic paraplegia type 14
Autosomal recessive
Adult
Autosomal recessive spastic paraplegia type 20
Autosomal recessive
Infancy
Autosomal recessive spastic paraplegia type 21
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive spastic paraplegia type 23
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 24
Autosomal recessive
Infancy
Autosomal recessive spastic paraplegia type 25
Autosomal recessive
Adult
Autosomal recessive spastic paraplegia type 26
Autosomal recessive
Adolescent, Childhood
Autosomal recessive spastic paraplegia type 27
Autosomal recessive
Adolescent, Adult
Autosomal recessive spastic paraplegia type 28
Autosomal recessive
Adolescent, Childhood, Infancy
Autosomal recessive spastic paraplegia type 32
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 35
Autosomal recessive
Adolescent, Childhood
Autosomal recessive spastic paraplegia type 39
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 43
Autosomal recessive
Adolescent, Childhood
Autosomal recessive spastic paraplegia type 44
Autosomal recessive
Adolescent, Adult
Autosomal recessive spastic paraplegia type 45
Autosomal recessive
Infancy
Autosomal recessive spastic paraplegia type 46
Autosomal recessive
Childhood, Infancy
Autosomal recessive spastic paraplegia type 48
Autosomal recessive
Adult
Autosomal recessive spastic paraplegia type 53
Autosomal recessive
Infancy
Autosomal recessive spastic paraplegia type 54
Autosomal recessive
Childhood, Infancy
Autosomal recessive spastic paraplegia type 55
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 56
Autosomal recessive
Childhood, Infancy, Neonatal