Search results for "[genes] PDHA1"

10 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 49 29.339
2
P LGH007 Leigh Syndrome 70 20.746
3
CFF002 Coffin-Lowry Syndrome 56 16.939
4
P LCT001 Lactic Acidosis 52 16.939
5
PRV004 Periventricular Leukomalacia 51 14.669
6
P XLN007 X-Linked Disease 34 14.669
7
XLN036 X-Linked Leigh Syndrome 3 14.669
8
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38 11.978
9
LKM006 Leukomalacia 41 11.978
10
LGH012 Leigh Syndrome with Leukodystrophy 25 8.469