Search results for "[genes] PDHA1"

9 hits were found for '[genes] PDHA1'

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47 27.014
2
P LGH007 Leigh Syndrome 65 20.925
3
CFF002 Coffin-Lowry Syndrome 63 17.085
4
XLN036 X-Linked Leigh Syndrome 7 17.085
5
P RTN025 Retinoschisis 50 12.081
6
PRV004 Periventricular Leukomalacia 39 12.081
7
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 36 12.081
8
LKM006 Leukomalacia 27 12.081
9
LGH013 Leigh Syndrome with Cardiomyopathy 22 8.542