FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Myoclonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.310 GeneticVariation phenotype BEFREE In this report we describe a female child with global developmental delay, microcephaly and myoclonic seizures harbouring a 5 Mb deletion in 14q12 locus resulting in deletion of single copy of brain specific genes FOXG1, PRKD1 and NOVA1. 29920362 2018
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.310 Biomarker phenotype CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008