MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Spastic paraplegia type 2

ORPHA:99015Kr.
X-linked recessive

Spastic paraplegia type 7

ORPHA:99013Kr.
Autosomal dominant, Autosomal recessive

Spastic paraplegia-Paget disease of bone syndrome

ORPHA:329475Kr.
Autosomal dominant

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Malf.

Spastic paraplegia-glaucoma-intellectual disability syndrome

ORPHA:2818Kr.
Autosomal recessive

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Malf.
Autosomal dominant

Spastic paraplegia-nephritis-deafness syndrome

ORPHA:2820Clinical syndrome
Autosomal dominant

Spastic paraplegia-neuropathy-poikiloderma syndrome

ORPHA:2821Kr.

Spastic paraplegia-optic atrophy-neuropathy syndrome

ORPHA:320406Kr.
Autosomal recessive

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

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Malf.
Not applicable

Spina bifida and other spinal dysraphisms

ORPHA:823Kat.
Multigenic/multifactorial, Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Malf.

Spinal arteriovenous metameric syndrome

ORPHA:53721Malf.
Not applicable

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

ORPHA:1217Kr.

Spinal cord arteriovenous malformation

ORPHA:715284Morph.
Not applicable

Spinal cord injury

ORPHA:90058spez. Sit.
Not applicable

Spinal dysraphism with a posterior meningocele

ORPHA:268744Kl. gruppe
Multigenic/multifactorial, Not applicable