bilateral parasagittal parieto-occipital polymicrogyria

Summary
Synonym
  • bilateral temporooccipital polymicrogyria
Definition
A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
Super Class
autosomal recessive disease polymicrogyria
External Links
Disease Ontology
DOID:0080923
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
33658 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855392 FIG4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 35 in total
HPO ID HPO Term
HP:0001345 Psychotic mentation
HP:0000718 Aggressive behavior
HP:0008765 Auditory hallucination
HP:0000365 Hearing impairment
HP:0002367 Visual hallucination
HP:0001250 Seizure
HP:0000252 Microcephaly
HP:0001257 Spasticity
HP:0002539 Cortical dysplasia
HP:0000505 Visual impairment
Displaying 1 entry
Gene ID Gene Symbol Description
9896 FIG4 FIG4 phosphoinositide 5-phosphatase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024