Rare Disease Library

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia

Pure or complex hereditary spastic paraplegia

Pure or complex familial spastic paraplegia · Pure or complicated familial spastic paraplegia

Pure or complex X-linked spastic paraplegia

Pure or complicated X-linked spastic paraplegia

RNASEH2B-related hereditary spastic paraplegia

Ribonuclease H2 subunit B-related hereditary spastic paraplegia

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

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

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

X-linked complicated spastic paraplegia type 1

SPG1

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked parkinsonism-spasticity syndrome

XPDS

X-linked pure spastic paraplegia

X-linked spastic paraplegia type 16

SPG16

X-linked spastic paraplegia type 34

SPG34

X-linked spasticity-intellectual disability-epilepsy syndrome

PANDAS

Pediatric autoimmune disorders associated with Streptococcus infections · Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS