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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-01-2019
Symbol LDHCC
Location 1p34.3
Name lissencephaly with dysplastic hippocampus, and corpus callosum
Corresponding gene MACF1
Other symbol(s) LIS9
Main clinical features
  • global developmental delay, severe intellectual disability, axial hypotonia (with limb spasticity in three of eight), and seizures, involuntary movements, and stereotypies, seizure types included infantile spasms, myoclonic seizures, and mixed partial and generalized seizures
  • cortical malformation consists of diffuse pachygyria with thick cortex, thin anterior commissures, mildly dysplastic hippocampus and mildly thin corpus callosum, cerebellum abnormalities
  • Genetic determination not applicable
    Function/system disorder neurology
    mental retardation
    Type MCA/MR
  • recurrent de novo, heterozygous, missense mutations that involve the zinc ion-binding pocket in the GAR domain of MACF1 and cause defects (resembling those in mouse knockouts) in neuronal migration and axonal pathfinding (PMID: 30471716))