ZTTK syndrome
... periventricular nodular heterotopia. De novo LoF mutations in TUBG1 can result in microcephaly and cortical malformations due ... and periventricular nodular heterotopia; failure of neurons to migrate properly during early development of the fetal brain. ... "Periventricular heterotopia , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ... hypoplasia of the corpus callosum and cerebellar hemispheres and loss of periventricular white matter. Most individuals with ...
Ganglionic eminence
Mis-migration of neurons can also result in bilateral periventricular nodular heterotopia, a disease recognized by neuronal ... and heterotopia. Further research could be done on the migration of cells from the basal ganglia to the neocortex. The ... and focal/subependymal heterotopia. Kallmann syndrome is recognized by anosmia associated with mental retardation, hypogonadism ... heterotopia lining the lateral ventricles. Zellweger Syndrome is characterized by a cortical dysplasia similar to ...
FLNA
GeneReviews/NIH/NCBI/UW entry on X-Linked Periventricular Heterotopia or Bilateral Periventricular Nodular Heterotopia ( ...
Oculocerebrocutaneous syndrome
... callosum Enlarged lateral ventricles Interhemispheric cysts Hydrocephalus Polymicrogyria Periventricular nodular heterotopia ... These include Skin lesions Hypoplastic or aplastic skin defects Pedunculated, hamartomatous or nodular skin appendages Eye ...
Gray matter heterotopia
Heterotopias are classed in two groups: nodular and diffuse. Nodular types are subependymal and subcortical; diffuse types are ... GeneReviews/NCBI/NIH/UW entry on X-Linked Periventricular Heterotopia Ferland, Russell J.; Batiz, Luis Federico; Neal, Jason; ... Grey matter heterotopia is such an example. It is believed that gray matter heterotopia are caused by an interruption in the ... Grey matter heterotopia is characterized as a type of focal cortical dysplasia. The neurons in heterotopia are otherwise ...
List of OMIM disorder codes
NODAL Heterotopia, periventricular; 300049; FLNA Heterotopia, periventricular, ED variant; 300537; FLNA Hirschsprung's disease ... PRKAR1A Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A Pigmented paravenous chorioretinal atrophy; 172870 ... CTSC Periventricular heterotopia with microcephaly; 608097; ARFGEF2 Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1 ...