Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Spastic paraplegia-precocious puberty syndrome
Autosomal dominant
Childhood
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Autosomal recessive
Infancy
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Autosomal recessive
Childhood
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Autosomal recessive
Infancy, Neonatal
Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive
Infancy
Spermatocytic seminoma
Unknown
Adolescent, Adult
Spheroid body myopathy
Autosomal dominant
All ages
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Neonatal
Spinal muscular atrophy with respiratory distress type 1
Autosomal recessive
Infancy, Neonatal
Spinal muscular atrophy with respiratory distress type 2
Unknown
Neonatal
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Autosomal recessive
Childhood
Spinal pial arteriovenous fistula
Not applicable
Spindle cell hemangioma
Not applicable
Adolescent, Adult, Childhood, Elderly
Spinocerebellar ataxia type 1
Autosomal dominant
All ages
Spinocerebellar ataxia type 10
Autosomal dominant
Adult
Spinocerebellar ataxia type 11
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Spinocerebellar ataxia type 12
Autosomal dominant
All ages
Spinocerebellar ataxia type 13
Autosomal dominant
Adult
Spinocerebellar ataxia type 14
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Spinocerebellar ataxia type 15/16
Autosomal dominant
Adult, Elderly
Spinocerebellar ataxia type 17
Autosomal dominant
All ages
Spinocerebellar ataxia type 18
Autosomal dominant
Adult
Spinocerebellar ataxia type 19/22
Autosomal dominant
Adult
Spinocerebellar ataxia type 2
Autosomal dominant
All ages