Fatty acyl-CoA reductase 1 deficiency
Name: |
Fatty acyl-CoA reductase 1 deficiency
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Description: |
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.
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ORPHAcode: |
438178
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Synonyms: |
FAR1 deficiency
PFCRD
Peroxisomal fatty acyl-CoA reductase 1 disorder
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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