Syndromic dyslipidemia

Part of

Sub-types of Syndromic dyslipidemia

• CHILD syndrome 37 trials
• Smith-Lemli-Opitz syndrome 6 trials
• Cerebrotendinous xanthomatosis 6 trials
• Familial lipoprotein lipase deficiency 6 trials
• Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types
  2 sub-types

  • Wolman disease 6 trials
  • Cholesteryl ester storage disease 1 trial
• Barth syndrome 5 trials
• Mevalonate kinase deficiency 3 trials · 4 incl. sub-types
  2 sub-types

  • Hyperimmunoglobulinemia D with periodic fever 2 trials
  • Mevalonic aciduria 0 trials
• GM1 gangliosidosis type 1 3 trials
• Sjogren-Larsson syndrome 3 trials
• Nephrotic syndrome 14 3 trials
• Apparent mineralocorticoid excess 1 trial
• Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
• Rhizomelic chondrodysplasia punctata type 1 1 trial
• Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types
  1 sub-type

  • Rhizomelic chondrodysplasia punctata type 5 1 trial
• CHIME syndrome 0 trials
• Krabbe disease due to saposin A deficiency 0 trials
• PHARC syndrome 0 trials
• Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
• Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
• Familial apolipoprotein C-II deficiency 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
• Hyperlipoproteinemia, type 1D 0 trials
• Hyperphosphatasia-intellectual disability syndrome 0 trials
  6 sub-types

  • Hyperphosphatasia with intellectual disability syndrome 1 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 2 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 3 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 4 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 5 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 6 0 trials
• Intellectual disability, autosomal recessive 53 0 trials
• Lipoprotein glomerulopathy 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
• Sea-blue histiocyte syndrome 0 trials
• Sitosterolemia 0 trials
  2 sub-types

  • Sitosterolemia 1 0 trials
  • Sitosterolemia 2 0 trials