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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Alternating hemiplegia ORPHA:209978
  - Athabaskan brainstem dysgenesis syndrome ORPHA:69739
  - Brain calcification, Rajab type ORPHA:178506
  - Familial advanced sleep-phase syndrome ORPHA:164736
  - Flynn-Aird syndrome ORPHA:2047
  - Genetic central nervous system and retinal vascular disease ORPHA:183503
  - Genetic central nervous system malformation ORPHA:183506
  - Genetic dementia ORPHA:158124
  - Genetic neurodegenerative disease ORPHA:183500
  - Genetic neurological channelopathy of the central nervous system ORPHA:98743
  - Genetic neuromuscular disease ORPHA:183497
  - Genetic peripheral neuropathy ORPHA:98497
  - Genetic primary orthostatic disorder ORPHA:521232
  - Hereditary ataxia ORPHA:183518
  - Inherited congenital spastic tetraplegia ORPHA:210141
  - Isolated childhood apraxia of speech ORPHA:209908
  - Leukodystrophy ORPHA:68356
  - Neurometabolic disease ORPHA:68385
  - Paroxysmal extreme pain disorder ORPHA:46348
  - Rare genetic autonomic nervous system disorder ORPHA:434786
  - Rare genetic epilepsy ORPHA:183512
  - Rare genetic headache ORPHA:183509
  - Rare genetic intellectual disability ORPHA:183757
  - Rare genetic medullar disease ORPHA:183515
  - Rare genetic movement disorder ORPHA:183521
  - Rare pervasive developmental disorder ORPHA:168778
  - Recessive KLHL7-related disorder ORPHA:603699
  - USP18 deficiency ORPHA:481665

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