Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal dominant spastic paraplegia type 29
Autosomal dominant
Adolescent
Autosomal dominant spastic paraplegia type 3
Autosomal dominant
Adult, Childhood
Autosomal dominant spastic paraplegia type 31
Autosomal dominant
Childhood
Autosomal dominant spastic paraplegia type 36
Autosomal dominant
Adolescent, Adult
Autosomal dominant spastic paraplegia type 37
Autosomal dominant
All ages
Autosomal dominant spastic paraplegia type 38
Autosomal dominant
Childhood
Autosomal dominant spastic paraplegia type 4
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant spastic paraplegia type 41
Autosomal dominant
Adolescent, Adult
Autosomal dominant spastic paraplegia type 42
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 6
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 73
Autosomal dominant
Adult
Autosomal dominant spastic paraplegia type 8
Autosomal dominant
Adolescent, Adult
Autosomal dominant spastic paraplegia type 80
Autosomal dominant
Adolescent, Childhood
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant
Adolescent, Adult, Infancy
Autosomal dominant spastic paraplegia type 9B
Autosomal dominant
Adolescent, Adult, Infancy
Autosomal dominant striatal neurodegeneration
Autosomal dominant
Adult
Autosomal dominant thrombocytopenia with platelet secretion defect
Autosomal dominant
Childhood
Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant
All ages
Autosomal erythropoietic protoporphyria
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Autosomal recessive ACTN2-related distal myopathy
Autosomal recessive
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive
Infancy, Neonatal
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive
Adolescent, Childhood