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GENATLAS PHENOTYPE

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

Remark(s)

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))