Search results for "[genes] PDHA1"

11 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 50 27.846
2
P LGH007 Leigh Syndrome 70 20.565
3
CFF002 Coffin-Lowry Syndrome 55 18.774
4
P LCT001 Lactic Acidosis 51 18.774
5
PRV004 Periventricular Leukomalacia 48 16.792
6
P XLN007 X-Linked Disease 34 16.792
7
XLN036 X-Linked Leigh Syndrome 4 16.792
8
LKM006 Leukomalacia 43 14.542
9
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38 14.542
10
MTC005 Mitochondrial Metabolism Disease 36 11.873
11
LGH012 Leigh Syndrome with Leukodystrophy 25 11.873