A 2-year-old boy with hypoactivity of neonatal onset and profound developmental delay.
Mizuguchi
Masashi
M
Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Japan. mizuguchi-tky@umin.ac.jp
Itoh
Masayuki
M
Ozawa
Hiroshi
H
Morikawa
Yukihiko
Y
D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000235:genetics; D001919:Bradycardia / Q000209:etiology; D001921:Brain / Q000473:pathology*; D027682:Cation Transport Proteins / Q000235:genetics; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D002658:Developmental Disabilities / Q000209:etiology* / Q000473:pathology; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation
D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases