Search results for "[genes] PDHA1"

11 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 49 29.030
2
P LGH007 Leigh Syndrome 70 20.527
3
P LCT001 Lactic Acidosis 52 18.739
4
CFF002 Coffin-Lowry Syndrome 55 16.760
5
PRV004 Periventricular Leukomalacia 48 14.515
6
P XLN007 X-Linked Disease 34 14.515
7
XLN036 X-Linked Leigh Syndrome 4 14.515
8
LKM006 Leukomalacia 42 11.851
9
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37 11.851
10
MTC005 Mitochondrial Metabolism Disease 38 8.380
11
LGH012 Leigh Syndrome with Leukodystrophy 25 8.380