bone age

This is the list of current selected symptoms or laboratory findings.
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Associated Diseases	Laboratory Findings	Clinical Symptoms
MEVALONIC ACIDURIA MIM:251170 RETT SYNDROME MIM:312750	2-Oxoglutaric acid Cholesterol Creatinine kinase EEG abnormalities [-] Glutamic acid Glutamate Hemoglobine Lactate Mevalonate kinase Mevalonic acid Mevalonolactone Orotic acid Pyruvate Pyruvic acid Very-long-chain fatty acids	Amino acid, spinal fluid arthralgia ataxia behavior, autism or autistic-like bone age cardiac arrhythmia, dysrhythmia cataract cerebellar atrophy or hypoplasia diarrhea dysmorphism early death edema failure to thrive fever hand movements, abnormal, stereotyped hypertonia, spasticity hypotonia infections (severe or recurrent) large liver large spleen mental retardation microcephaly motor retardation myopathy normal at birth onset, child onset, infant Organic acids, plasma Organic acids, urine pigmentation, skin and sclera respiratory alkalosis retinitis pigmentosa seizures short stature skin rushes speech development, delayed, abnormal tachypnea, hyperpnea, dyspnea, respiratory distress vomiting