Search results for "[genes] PDHA1"

12 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 52 28.871
2
P LGH007 Leigh Syndrome 67 23.573
3
P LCT001 Lactic Acidosis 40 18.636
4
CFF002 Coffin-Lowry Syndrome 57 16.669
5
MTC005 Mitochondrial Metabolism Disease 26 16.669
6
P EPS003 Episodic Ataxia 44 14.435
7
PRV004 Periventricular Leukomalacia 42 14.435
8
c XLN007 X-Linked Disease 25 14.435
9
XLN036 X-Linked Leigh Syndrome 9 14.435
10
LKM006 Leukomalacia 33 11.786
11
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 33 11.786
12
LGH012 Leigh Syndrome with Leukodystrophy 23 8.334