Neurology / Neuropediatrics
-
Epileptic encephalopathy, early infantile type 8 (sequence analysis of ARHGEF9 gene)
+ info
-
Epileptic encephalopathy, early infantile | Ataxia-oculomotor apraxia 4 (deletion/duplication analysis on PNKP gene)
+ info
-
Epileptic encephalopathy, early infantile, 14 | Epilepsy, nocturnal frontal lobe, 5 (deletion/duplication analysis of KCNT1 gene)
+ info
-
Epileptic encephalopathy, early infantile, 19 (sequence analysis of GABRA1 gene)
+ info
-
Epileptic encephalopathy, early infantile, 23 (sequence analysis of DOCK7 gene)
+ info
-
Epileptic encephalopathy, early infantile, 3 (sequence analysis of SLC25A22 gene)
+ info
-
Epileptic encephalopathy, early infantile, 31 (sequence analysis of DNM1 gene)
+ info
-
Epileptic encephalopathy, Lennox-Gastaut type (sequence analysis of MAPK10 gene)
+ info
-
Episodic ataxia (NGS panel of 4 genes)
+ info
-
Episodic ataxia type 1 (sequence analysis of KCNA1 gene)
+ info
-
Episodic ataxia type 2 (deletion/duplication analysis of CACNA1A gene)
+ info
-
Episodic ataxia type 5 (sequence analysis of CACNB4 gene)
+ info
-
Episodic ataxia type 6 (EA6, sequence analysis of SLC1A3 gene)
+ info
-
Episodic ataxia, type 2 (sequence analysis of CACNA1A gene)
+ info
-
Episodic kinesigenic dyskinesia 1 (sequence analysis of PRRT2 gene)
+ info
-
Ethylmalonic encephalopathy (sequence analysis of ETHE1 gene)
+ info
-
Exudative vitreoretinopathy 7 | Mental retardation, autosomal dominant 19 (sequence analysis of CTNNB1 gene)
+ info
-
Fabry disease (deletion/duplication analysis on GLA gene)
+ info
-
Fabry disease (sequence analysis of GLA gene)
+ info
-
Facial paresis, hereditary congenital, type 3 (sequence analysis of HOXB1 gene)
+ info
