Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

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Sub-types of Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

• Barth syndrome 5 trials
• Sjogren-Larsson syndrome 3 trials
• Nephrotic syndrome 14 3 trials
• Neutral lipid storage disease 1 trial · 2 incl. sub-types
  3 sub-types

  • Dorfman-Chanarin disease 1 trial
  • Triglyceride deposit cardiomyovasculopathy 1 trial Sub-types →
  • Neutral lipid storage myopathy 0 trials
• Hereditary sensory and autonomic neuropathy type 1 0 trials · 2 incl. sub-types
  6 sub-types

  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2 trials
  • Hereditary sensory neuropathy-deafness-dementia syndrome 0 trials
  • Neuropathy, hereditary sensory and autonomic, type 1A 0 trials
  • Neuropathy, hereditary sensory and autonomic, type 1C 0 trials
  • Neuropathy, hereditary sensory, type 1D 0 trials
  • Neuropathy, hereditary sensory, type 1F 0 trials
• 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
• GM3 synthase deficiency 0 trials
• PHARC syndrome 0 trials
• Sengers syndrome 0 trials
• Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
• Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
• Fatty acid hydroxylase-associated neurodegeneration 0 trials
• Hereditary spastic paraplegia 39 0 trials
  1 sub-type

  • PNPLA6-related spastic paraplegia with or without ataxia 0 trials
• Megaconial type congenital muscular dystrophy 0 trials
• Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 trials
• Progressive myoclonic epilepsy type 8 0 trials
• Spinocerebellar ataxia type 38 0 trials