Rare Disease Library

Sotos syndrome

Cerebral gigantism

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

Spasmus nutans

Spastic ataxia

SPAX

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Spastic ataxia-dysarthria due to glutaminase deficiency

Spastic paraparesis-cataracts-speech delay syndrome

Fatty acyl-CoA reductase 1 superactivity

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

Spastic paraplegia type 7

SPG7

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-facial-cutaneous lesions syndrome

Bahemuka-Brown syndrome

Spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Spastic paraplegia-neuropathy-poikiloderma syndrome

Antinolo-Nieto-Borrego syndrome

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

SPOAN and SPOAN-related disorder

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

Spastic paraplegia-Paget disease of bone syndrome

Spastic paraplegia-precocious puberty syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells

Specific language disorder

Dysphasia

Specific learning disability

Specific learning difficulty · Specific learning disorder

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

Spermatocytic seminoma

Spheroid body myopathy

Sphingolipidosis

Sphingolipidosis with epilepsy

Spigelian hernia-cryptorchidism syndrome

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism

Spina bifida-hypospadias syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Hamano-Tsukamoto syndrome

Spinal cord injury

Spinal cord lipoma

Spinal dermal sinus

Dermal sinus tract

Spinal dysraphism with a posterior meningocele

Spina bifida cystica

Spinal muscular atrophy associated with central nervous system anomaly

Kugelberg-Welander disease · SMA

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Kugelberg-Welander disease · SMA

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Spindle cell hemangioma

Spindle cell hemangioendothelioma