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ENOliver-Mcfarlane Syndrome (OMCS)
Alias:
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long Eyelashes-Intellectual Disability Syndrome
Omcs
Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of Retina
Congenital Trichomegaly, Pigmentary Retinal Degeneration, and Short Stature
Trichomegaly, Retina Pigmentary Degeneration, Dwarfism
Trichomegaly Retina Pigmentary Degeneration Dwarfism
Eyelashes, Long, with Mental Retardation
Eyelashes Long Mental Retardation
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Oliver-Mcfarlane Syndrome, also known as trichomegaly-retina pigmentary degeneration-dwarfism syndrome, is related to laurence-moon syndrome and spastic paraplegia 39, autosomal recessive. An important gene associated with Oliver-Mcfarlane Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include retina and pituitary, and related phenotypes are retinal degeneration and intellectual disability
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