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GENATLAS PHENOTYPE
last update : 20-04-2020
Symbol MLCD2
Location 10q24.1
Name microcephaly, lymphedema, chorioretinopathy syndrome 2
Other name(s) microcephaly, lymphedema, and chorioretinopathy syndrome
Corresponding gene KIF11
Other symbol(s) MLCRD, MCLMR
Main clinical features
  • microcephaly variably associated with congenital lymphedema and/or chorioretinopathy
  • microcephaly, ranging from mild to severe, is the critical component of both syndromes and is often associated with mild to moderate developmental delay and a characteristic facial phenotype
  • chorioretinopathy constitutes the most common eye abnormality but also retinal folds, microphthalmia, and myopic and hypermetropic astigmatism
  • lymphedema is congenital and typically confined to the dorsa of the feet
  • Genetic determination autosomal dominant
    Related entries including MLCRD and CDMMR (chorioretinal dysplasia, microcephaly, and mental retardation) syndrome (MIM 156590) that are allelic disorders
    Function/system disorder dermatology
    cardiovascular
    neurology
    Type disease
    Remark(s)
  • mutations are located within the motor domain, and within the bimC box in the C-terminal tail of the molecule (PMID: 22284827))