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OMMBID Table of Contents >>

  • Part 1: Introduction
    Part 1: Introduction
  • Part 2: Perspectives
    Part 2: Perspectives
  • Part 3: General Themes
    Part 3: General Themes
  • Part 4: Cancer
    Part 4: Cancer
  • Part 5: Chromosomes
    Part 5: Chromosomes
  • Part 6: Diagnostic Approaches
    Part 6: Diagnostic Approaches
  • Part 7: Carbohydrates
    Part 7: Carbohydrates
  • Part 8: Amino Acids
    Part 8: Amino Acids
  • Part 9: Organic Acids
    Part 9: Organic Acids
  • Part 10: Disorders of Mitochondrial Function
    Part 10: Disorders of Mitochondrial Function
  • Part 11: Purines and Pyrimidines
    Part 11: Purines and Pyrimidines
  • Part 12: Lipids
    Part 12: Lipids
  • Part 13: Porphyrins
    Part 13: Porphyrins
  • Part 14: Metals
    Part 14: Metals
  • Part 15: Peroxisomes
    Part 15: Peroxisomes
  • Part 16: Lysosomal Disorders
    Part 16: Lysosomal Disorders
  • Part 17: Vitamins
    Part 17: Vitamins
  • Part 18: Hormones
    Part 18: Hormones
  • Part 19: Blood
    Part 19: Blood
  • Part 20: Immune and Defense Systems
    Part 20: Immune and Defense Systems
  • Part 21: Membrane Transport Disorders
    Part 21: Membrane Transport Disorders
  • Part 22: Connective Tissue
    Part 22: Connective Tissue
  • Part 23: Cardiovascular System
    Part 23: Cardiovascular System
  • Part 24: Kidney
    Part 24: Kidney
  • Part 25: Muscle
    Part 25: Muscle
  • Part 26: Lung
    Part 26: Lung
  • Part 27: Skin
    Part 27: Skin
  • Part 28: Neurogenetics
    Part 28: Neurogenetics
  • Part 29: Eye
    Part 29: Eye
  • Part 30: Multisystem Inborn Errors of Development
    Part 30: Multisystem Inborn Errors of Development
  • Part 31: Neurogenetics
    Part 31: Neurogenetics

OMMBID Blog >>

11/18/2016

New mechanism of mitochondrial disease leading to left ventricular non-compaction

Eldomery et al. (Genome Medicine (2016) 8:106) recently described a new mechanism of mitochondrial disease underlying a phenotype of left ventricular non-compaction, hypotonia and early death. Four affected individuals were found via whole exome sequencing to have compound heterozygous or homozygous pathogenic variants in a gene called MIPEP. This gene ... Read More >>
10/3/2016

NEDD4L mutations leading to AKT-mTOR pathway deregulation cause periventricular nodular heterotopia

The genetic cause of periventricular nodular heterotopia (PNH) resulting in neurodevelopmental disorders remains in many cases unknown. Broix and colleagues showed that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and developmental delay. PNH-associated ... Read More >>

New Resource >>

Molecular Animation

The Lecithin Cholesterol Acyltransferase (LCAT) Reaction animation, featured on Chapter 118 of OMMBID.