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GENATLAS PHENOTYPE
last update : 04-12-2014
Symbol RCDP4
Location 11p145.2
Name rhizomelic chondrodysplasia punctata, type 4
Corresponding gene FAR1
Main clinical features
  • severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, spasticity, and growth retardation but without rhizomelia.
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    metabolism/lipoprotein-lipid
    neurology
    eye
    Type disease
    Gene product
    Name . mutations abolished the reductase activity of FAR1, given that no fatty alcohols could be detected (PMID: 25439727)
    Remark(s)