Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal recessive cutis laxa type 1
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cutis laxa type 2
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cutis laxa type 2A
Autosomal recessive
Neonatal
Autosomal recessive cutis laxa type 2B
Autosomal recessive
Infancy, Neonatal
Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal recessive
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Autosomal recessive
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Autosomal recessive
Autosomal recessive distal hereditary motor neuropathy
Autosomal recessive
Autosomal recessive distal myopathy
Autosomal recessive
Autosomal recessive distal nebulin myopathy
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Autosomal recessive distal osteolysis syndrome
Autosomal recessive
Childhood
Autosomal recessive distal renal tubular acidosis
Autosomal recessive
Childhood, Infancy
Autosomal recessive dopa-responsive dystonia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive epidermolytic ichthyosis
Autosomal recessive
Autosomal recessive extra-oral halitosis
Autosomal recessive
Autosomal recessive faciodigitogenital syndrome
Autosomal recessive
Neonatal
Autosomal recessive frontotemporal pachygyria
Autosomal recessive
Infancy, Neonatal
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive
Neonatal
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive
Neonatal
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive
Infancy, Neonatal
Autosomal recessive hereditary chronic pancreatitis
Autosomal recessive
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Autosomal recessive