Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Spastic paraplegia type 2
X-linked recessive
Childhood
Spastic paraplegia type 7
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Spastic paraplegia-Paget disease of bone syndrome
Autosomal dominant
Adult
Spastic paraplegia-facial-cutaneous lesions syndrome
Infancy
Spastic paraplegia-glaucoma-intellectual disability syndrome
Autosomal recessive
Adult
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Autosomal dominant
Antenatal, Neonatal
Spastic paraplegia-nephritis-deafness syndrome
Autosomal dominant
No data available
Spastic paraplegia-neuropathy-poikiloderma syndrome
Childhood
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive
Childhood, Infancy
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
Spigelian hernia-cryptorchidism syndrome
Not applicable
Infancy, Neonatal
Spina bifida and other spinal dysraphisms
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Spina bifida-hypospadias syndrome
Antenatal, Infancy, Neonatal
Spinal arteriovenous metameric syndrome
Not applicable
All ages
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Neonatal
Spinal cord arteriovenous malformation
Not applicable
Spinal cord injury
Not applicable
All ages
Spinal dysraphism with a posterior meningocele
Multigenic/multifactorial, Not applicable
Infancy, Neonatal