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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-09-2018
Symbol EDMM
Location 15q26.1
Name macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Other name(s)
  • Al-Gazali-Bakalinova syndrome
  • Corresponding gene KIF7
    Other symbol(s) MMEDF, AGBK
    Main clinical features
  • dysmorphic facies, genu valgum, and swelling of the joints
  • normal stature with frontal bossing, hypertelorism, flattening of the malar region, and low-set ears, neck short, and pectus excavatum, spindle-shaped fingers with interdigital soft-tissue webbing, clinodactyly, genu valgum with prominent joints, particularly the wrist, knee, and ankle joints
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name aggrecan excluded