Search results for "PDHA1"

11 hits were found for 'PDHA1'
Try searching for pha1

# Family MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 24 7.925
2
XLN036 X-Linked Leigh Syndrome 15 5.115
3
CFF002 Coffin-Lowry Syndrome 72 4.575
4
RTN025 Retinoschisis 59 3.235
5
PRV004 Periventricular Leukomalacia 46 3.235
6
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 39 3.235
7
PYR002 Pyruvate Decarboxylase Deficiency 35 3.235
8
LKM006 Leukomalacia 33 3.235
9
LGH013 Leigh Syndrome with Cardiomyopathy 26 2.288
10
WST001 West Syndrome 62 0.100
11
LCT001 Lactic Acidosis 46 0.100