Details of Disease

General Information of Disease (ID: DISN02H0)

Disease Name Bilateral parasagittal parieto-occipital polymicrogyria
Synonyms polymicrogyria, bilateral temporooccipital; BTOP
Disease Hierarchy
DISMZLHY: Bilateral polymicrogyria
DISD715V: Hereditary neurological disease
DISN02H0: Bilateral parasagittal parieto-occipital polymicrogyria
Disease Identifiers
MONDO ID
MONDO_0012986
UMLS CUI
C4013648
OMIM ID
612691
MedGen ID
862085
Orphanet ID
208441

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FIG4 OT501PY9 Supportive Autosomal recessive [1]
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References

1 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.