Rare Disease Library

OBSOLETE: Infantile symmetrical thalamic degeneration

OBSOLETE: Infantile thalamic degeneration

OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly

OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome

OBSOLETE: Vitreoretinal degeneration

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

PCNA-related progressive neurodegenerative photosensitivity syndrome

Pellucid marginal degeneration

Pemphigus vegetans

PLA2G6-associated neurodegeneration

PLAN

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Pseudo-Zellweger syndrome

Thiolase deficiency

Rare neurodegenerative disease

Rare parkinsonian syndrome due to genetic neurodegenerative disease

Rare parkinsonian syndrome due to neurodegenerative disease

Retinal degeneration-nanophthalmos-glaucoma syndrome

Mackay-Shek-Carr syndrome

Rieger anomaly

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Snowflake vitreoretinal degeneration

Spinocerebellar degeneration-corneal dystrophy syndrome

Der Kaloustian-Jarudi-Khoury syndrome

Terrien marginal degeneration

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Vegetative pyoderma gangrenosum

Granulomatous pyoderma gangrenosum

X-linked neurodegenerative syndrome, Bertini type

X-linked neurodegenerative syndrome, Hamel type

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome