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 28 7.933
2
CFF002 Coffin-Lowry Syndrome 73 4.580
3
XLN036 X-Linked Leigh Syndrome 15 4.580
4
P RTN025 Retinoschisis 60 3.239
5
PYR002 Pyruvate Decarboxylase Deficiency 47 3.239
6
PRV004 Periventricular Leukomalacia 45 3.239
7
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 41 3.239
8
LKM006 Leukomalacia 32 3.239
9
LGH013 Leigh Syndrome with Cardiomyopathy 26 2.290
10
WST001 West Syndrome 72 0.100
11
LCT001 Lactic Acidosis 47 0.100