Search results for "PDHA1"

11 hits were found for 'PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47 7.194
2
P LGH007 Leigh Syndrome 65 5.572
3
XLN036 X-Linked Leigh Syndrome 7 4.714
4
CFF002 Coffin-Lowry Syndrome 63 4.550
5
P RTN025 Retinoschisis 50 3.217
6
PRV004 Periventricular Leukomalacia 39 3.217
7
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 36 3.217
8
LKM006 Leukomalacia 27 3.217
9
LGH013 Leigh Syndrome with Cardiomyopathy 22 2.275
10
WST001 West Syndrome 54 0.099
11
P LCT001 Lactic Acidosis 42 0.099