Okajima, 2006: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
7
n.a.
Seizures (ictal)
Spasticity
Delayed cognitive development
Seizures
Cognitive impairment (interictal)
Fatigue
Muscular hypotonia
Cognitive impairment
Tremor (any or unspecified)
Global development delay
Microcephaly
Show more (+8)
n.a.