extrapyramidal signs

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extrapyramidal signs

Associated Diseases	Laboratory Findings	Clinical Symptoms
2-HYDROXYGLUTARIC ACIDEMIA (L) MIM:236792 3-METHYLGLUTACONIC ACIDURIA (TYPE III) MIM:258501 CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY MIM:601240 GAUCHER DISEASE TYPE III MIM:231000 GLUTARIC ACIDURIA I MIM:231670 SEPIAPTERIN REDUCTASE DEFICIENCY MIM:182125 X-LINKED CREATINE-TRANSPORTER DEFECT MIM:300352	2-Hydroxyglutaric acid (L) 2-Oxoglutaric acid 3-Hydroxybutyric acid 3-Hydroxyglutaric acid 3-Methylglutaconic acid 3-Methylglutaric acid 5-Hydroxyindolacetic acid Acylcarnitin urine beta-Glucosidase Biopterin Carnitine Citrate Creatine uptake Creatine Creatine/creatinine ratio Creatinine CT brain abnormalities [-] DNA EEG abnormalities [-] Glucocerebrosidase Glutaconic acid Glutaric acid Glutaryl CoA dehydrogenase Glutarylcarnitine (C5DC) Guanidinoacetate Guanidinoacetate-methyltransferase Homovanillic acid Ketone bodies Lysine MRI brain abnormalities [-] MRS brain abnormalities [-] Protein total spinal fluid Sepiapterin Uric acid	alopecia ataxia behavior, abnormal or bizarre, confusion behavior, autism or autistic-like behavior, hyperactive, restless behavior, self-mutilating or destructive bleeding tendencies, hemorrhages blindness, visual loss, visual impairment bone marrow abnormality chorea or athetosis cortical or cerebral atrophy dysarthria dyskinesia dysmorphism dystonia early death encephalopathy extrapyramidal signs eye movements, abnormal failure to thrive fever grimacing growth retardation hygroma hyperpigmentation hypersalivation hypertonia, spasticity hypotonia infections (severe or recurrent) irritability ketosis large liver large spleen learning disability macrocephaly (large calvaria, >2 SD for age) mental retardation metabolic acidosis microcephaly motor retardation nephrotic syndrome, congenital neurological deterioration nystagmus oculogyric crisis onset, adolescent onset, child onset, infant onset, newborn opisthotonus optic atrophy Organic acids, urine progressive neurologic defect pyramidal signs seizures spastic diplegia/quadriplegia speech development, delayed, abnormal subdural haematoma tremor or twitching vomiting