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FOXG1 syndrome due to intragenic alteration

MedGen UID:
1842594
•Concept ID:
C5681589
•
Disease or Syndrome
Monarch Initiative: MONDO:0035713
Orphanet: ORPHA598164

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFOXG1 syndrome due to intragenic alteration

Recent clinical studies

Diagnosis

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
Guerrini R, Parrini E
Epilepsia 2012 Dec;53(12):2067-78. Epub 2012 Sep 21 doi: 10.1111/j.1528-1167.2012.03656.x. PMID: 22998673

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