MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Spastic paraplegia-precocious puberty syndrome

ORPHA:2826Kr.
Autosomal dominant

Spastic paraplegia-severe developmental delay-epilepsy syndrome

ORPHA:464282Kr.
Autosomal recessive

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

ORPHA:3011Kr.
Autosomal recessive

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:447997Kr.
Autosomal recessive

Spectrin-associated autosomal recessive cerebellar ataxia

ORPHA:352403Kr.
Autosomal recessive

Spermatocytic seminoma

ORPHA:99865Kr.
Unknown

Spheroid body myopathy

ORPHA:268129Kr.
Autosomal dominant

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

ORPHA:1217Kr.

Spinal muscular atrophy with respiratory distress type 1

ORPHA:98920Kr.
Autosomal recessive

Spinal muscular atrophy with respiratory distress type 2

ORPHA:404521Kr.
Unknown

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

ORPHA:2590Kr.
Autosomal recessive

Spinal pial arteriovenous fistula

ORPHA:715302Kr.
Not applicable

Spindle cell hemangioma

ORPHA:210584Kr.
Not applicable

Spinocerebellar ataxia type 1

ORPHA:98755Kr.
Autosomal dominant

Spinocerebellar ataxia type 10

ORPHA:98761Kr.
Autosomal dominant

Spinocerebellar ataxia type 11

ORPHA:98767Kr.
Autosomal dominant

Spinocerebellar ataxia type 12

ORPHA:98762Kr.
Autosomal dominant

Spinocerebellar ataxia type 13

ORPHA:98768Kr.
Autosomal dominant

Spinocerebellar ataxia type 14

ORPHA:98763Kr.
Autosomal dominant

Spinocerebellar ataxia type 15/16

ORPHA:98769Kr.
Autosomal dominant

Spinocerebellar ataxia type 17

ORPHA:98759Kr.
Autosomal dominant

Spinocerebellar ataxia type 18

ORPHA:98771Kr.
Autosomal dominant

Spinocerebellar ataxia type 19/22

ORPHA:98772Kr.
Autosomal dominant

Spinocerebellar ataxia type 2

ORPHA:98756Kr.
Autosomal dominant