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DO Term : bilateral perisylvian polymicrogyria [DOID:0080924] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.

synonyms:
OMIM:615752,
ORDO:98889,
GARD:6011,
615752

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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