Search results for "[genes] PDHA1"

13 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 53 27.410
2
P LGH007 Leigh Syndrome 71 20.244
3
P LCT001 Lactic Acidosis 50 18.480
4
CFF002 Coffin-Lowry Syndrome 57 16.529
5
P EPS003 Episodic Ataxia 56 14.314
6
PRV004 Periventricular Leukomalacia 46 14.314
7
P XLN007 X-Linked Disease 36 14.314
8
XLN036 X-Linked Leigh Syndrome 5 14.314
9
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 39 11.688
10
LKM006 Leukomalacia 36 11.688
11
MTC005 Mitochondrial Metabolism Disease 36 11.688
12
P RST002 Restrictive Cardiomyopathy 48 8.264
13
LGH012 Leigh Syndrome with Leukodystrophy 26 8.264