Patient,Biofluid,Causative_gene,LCMS_neg_mode,LCMS_pos_mode,HPO_terms
1,CSF,CPT1A,QT_141018_31.mzData,QT_141014_31.mzData,Type 1 collagen overmodification; general osteoporosis; Hyperphenylalaninemia; coma; abnormal bone density
2,CSF,NANS,QT_141018_59.mzData,QT_141014_59.mzData,Infantile spasms; short corpus callosum; dilated lateral ventricles; neurodevelopmental delay; laryngomalacia; gastrointestinal dysmotility; neutropenia; thrombocytopenia; mactocytosis; delayed myelination
3,CSF,SCN2A,QT_141018_56.mzData,QT_141014_56.mzData,progressive microcephaly; seizures
5,Plasma,CACNA1D,QT_170404_24.mzML,QT_170328_24.mzML,seizures; behavioral/psychiatric abnormality; aggression; low CSF 5-MTHF; cerebral atrophy; ataxia
6,Plasma,CNKSR2,QT_170404_41.mzML,QT_170328_41.mzML,orthostatic tachycardia; autonomic bladder dysfunction; gastrointestinal dysmotility; sepsis; reduced brain acetylcholine levels by MRS; memory impairment; central apnea
7,Plasma,IDS and HAL,QT_170404_30.mzML,QT_170328_30.mzML,profound global dev delay; short stature; facial dysmorphism; course facial features; behavioral disturbances; developmental regression; abnormal glycosaminoglycan metabolism; elevated keratan sulphate in urine
8,Plasma,CHRNA1 and DHFR,QT_170404_33.mzML,QT_170328_33.mzML,profound global dev delay; microcephaly; generalized hypotonia; dysmorphic features; feeding difficulties; growth retardation; CNS demyelination; increased serum lactate; abnormality of the cerebral white matter
9,CSF,ATP8A2,QT_141018_38.mzData,QT_141014_38.mzData,generalized hypotonia; ataxia
10,CSF,MYO5B,QT_141018_33.mzData,QT_141014_33.mzData,intellectual disability; abnormality of movement; sensorineural hearing impairment; myopathy; malabsorption; failure to thrive; hyperthreoninuria; hyperserinemia; hyperlysinuria; lactic acidosis; increased serum lactate
11,CSF,KCNQ2,QT_141018_36.mzData,QT_141014_36.mzData,neurodegernation; failure to thrive; microcephaly; delayed gross motor development; delayed fine motor development; speech delay; intellectual disability; stereotypy; abnormal myelination; cortical blindness; brain atrophy; dystonia; abnormal muscle tone; seizures; muscle weakness; hypointensity of cerebral white matter on MRI; microcephaly; abnormal of movement; severe global developmental delay
4,CSF,DYRK1A,QT_141018_41.mzData,QT_141014_41.mzData,epilepsy; absence seizures; Hypoglycorrhachia; neurodevelopmental delay; reduced CSF-lactate; ventriculomegaly
Control_1,Plasma,NA,QT_170404_15.mzML,QT_170328_15.mzML,NA
Control_2,Plasma,NA,QT_170404_18.mzML,QT_170328_18.mzML,NA
Control_3,Plasma,NA,QT_170404_43.mzML,QT_170328_43.mzML,NA
Control_4,Plasma,NA,QT_170404_38.mzML,QT_170328_38.mzML,NA
Control_5,Plasma,NA,QT_170404_19.mzML,QT_170328_19.mzML,NA
Control_6,Plasma,NA,QT_170404_46.mzML,QT_170328_46.mzML,NA
Control_7,Plasma,NA,QT_170404_49.mzML,QT_170328_49.mzML,NA
Control_8,Plasma,NA,QT_170404_16.mzML,QT_170328_16.mzML,NA
Control_9,Plasma,NA,QT_170404_52.mzML,QT_170328_52.mzML,NA
Control_10,Plasma,NA,QT_170404_17.mzML,QT_170328_17.mzML,NA
Control_11,CSF,NA,QT_141018_58.mzData,QT_141014_58.mzData,NA
Control_12,CSF,NA,QT_141018_55.mzData,QT_141014_55.mzData,NA
Control_13,CSF,NA,QT_141018_52.mzData,QT_141014_52.mzData,NA
Control_14,CSF,NA,QT_141018_50.mzData,QT_141014_50.mzData,NA
Control_15,CSF,NA,QT_141018_47.mzData,QT_141014_47.mzData,NA
Control_16,CSF,NA,QT_141018_45.mzData,QT_141014_45.mzData,NA
Control_17,CSF,NA,QT_141018_42.mzData,QT_141014_42.mzData,NA
Control_18,CSF,NA,QT_141018_40.mzData,QT_141014_40.mzData,NA
Control_19,CSF,NA,QT_141018_37.mzData,QT_141014_37.mzData,NA
Control_20,CSF,NA,QT_141018_34.mzData,QT_141014_34.mzData,NA
Control_21,CSF,NA,QT_141018_32.mzData,QT_141014_32.mzData,NA
Control_22,CSF,NA,QT_141018_28.mzData,QT_141014_28.mzData,NA
Control_23,CSF,NA,QT_141018_26.mzData,QT_141014_26.mzData,NA
Control_24,CSF,NA,QT_141018_24.mzData,QT_141014_24.mzData,NA
Control_25,CSF,NA,QT_141018_22.mzData,QT_141014_22.mzData,NA