Details of Disease

General Information of Disease (ID: DISI2HKZ)

• Disease Name: Bilateral generalized polymicrogyria
• Synonyms: polymicrogyria with seizures; microcephaly, short stature, and polymicrogyria with or without seizures; PMGYS; MSSP; microcephaly, short stature, and polymicrogyria with seizures; bilateral generalized polymicrogyria
• Definition: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
• Disease Hierarchy:
  DISMZLHY: Bilateral polymicrogyria
  DISD715V: Hereditary neurological disease
  DIS25LK9: Microcephalic primordial dwarfism due to RTTN deficiency
  DISI2HKZ: Bilateral generalized polymicrogyria
• Disease Identifiers:
  MONDO ID: MONDO_0013907
  UMLS CUI: C5139324
  MedGen ID: 1684616
  HPO ID: HP:0032410
  Orphanet ID: 208447
  SNOMED CT ID: 890287003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RTTN	OT5PB986	Moderate	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.