Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal recessive ataxia due to PEX16 deficiency
Autosomal recessive
Autosomal recessive ataxia due to PEX2 deficiency
Autosomal recessive
Adolescent, Childhood
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive
Childhood
Autosomal recessive ataxia, Beauce type
Autosomal recessive
Adult, Childhood, Neonatal
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive
Adolescent, Infancy
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive
Childhood
Autosomal recessive bestrophinopathy
Autosomal recessive
All ages
Autosomal recessive centronuclear myopathy
Autosomal recessive
Childhood, Infancy, Neonatal
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive
Adolescent, Childhood
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive
Infancy
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive
Childhood, Infancy
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive
Adult, Childhood, Elderly, Infancy
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive
Childhood
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive
Infancy, Neonatal
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive
Adolescent, Childhood, Infancy
Autosomal recessive cerebral atrophy
Autosomal recessive
Infancy, Neonatal
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Autosomal recessive
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Autosomal recessive
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive
Childhood, Infancy
Autosomal recessive cutis laxa type 1
Autosomal recessive
Infancy, Neonatal