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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFOXG1 syndrome due to intragenic alteration

Monogenic epilepsy
- FOXG1 syndrome
  - FOXG1 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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FOXG1 syndrome due to intragenic alteration
FOXG1 syndrome due to intragenic alteration

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