Rare Disease Library

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Ataxia-tapetoretinal degeneration syndrome

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

Retinal degeneration-nanophthalmos-glaucoma syndrome

Mackay-Shek-Carr syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-facial-cutaneous lesions syndrome

Bahemuka-Brown syndrome

Spastic paraplegia-glaucoma-intellectual disability 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 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

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome