Phenotypes for disease #02777 (AADCD (aromatic-L-amino-acid decarboxylase deficiency (AADCD)), OMIM:608643)

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0000229661 disease moderate severity; 3m-head control; turn over at 13 m; now could sit with support and say a few simple words; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 14m - 3m - - Johan den Dunnen 00302580
0000229662 disease moderate severity; 15m-head control; turn over at 20 m; now could sit with assistance and grasp small things in a few minutes; EEG delta slow wave; MRI brain increased extracerebral space aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 7m - 3m - - Johan den Dunnen 00302581
0000229663 disease moderate severity; 10m-head control; 19m-turn over; 19m-sit; now babble; EEG sharp slow wave ; MRI brain delayed myelination aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 12m - 5m - - Johan den Dunnen 00302582
0000229664 disease moderate severity; 12m-head control; 14m-turn over; 18m-sit; 8m-babble; 27m-walk; EEG normal; MRI brain increased extracerebral space aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 21m - 6m - - Johan den Dunnen 00302583
0000229665 severe, bedridden aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 17m - 3m - - Johan den Dunnen 00302584
0000229666 severe, bedridden; EEG normal; MRI brain delayed myelination aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 12m - 4m - - Johan den Dunnen 00302585
0000229667 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 8m - 4m - - Johan den Dunnen 00302586
0000229668 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 20m - 5m - - Johan den Dunnen 00302587
0000229669 severe, bedridden aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 19m - 3m - - Johan den Dunnen 00302588
0000229670 severe, bedridden; EEG normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 14m - 3m - - Johan den Dunnen 00302589
0000229671 severe, bedridden; MRI brain delayed myelination aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 8m - 3m15d - - Johan den Dunnen 00302590
0000229672 severe, bedridden; EEG normal; MRI brain delayed myelination aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 8m - 3m - - Johan den Dunnen 00302591
0000229673 severe, bedridden; EEG normal; MRI brain increased extracerebral space aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 9m - 7m - - Johan den Dunnen 00302592
0000229674 severe, bedridden; EEG normal; MRI brain increased extracerebral space aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 25m - 3m - - Johan den Dunnen 00302593
0000229675 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 9m - 4m - - Johan den Dunnen 00302594
0000229676 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 8m - 2m15d - - Johan den Dunnen 00302595
0000229677 severe, bedridden aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 18m - 4m - - Johan den Dunnen 00302596
0000229678 severe, bedridden aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 14m - 4m - - Johan den Dunnen 00302597
0000229679 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 5m - 2m - - Johan den Dunnen 00302598
0000229680 severe, bedridden; EEG posterior temporal sharp; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 4m - 3m - - Johan den Dunnen 00302599
0000229681 severe, bedridden; EEG normal; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 11m - 3m - - Johan den Dunnen 00302600
0000229682 severe, bedridden; EEG slow background; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 19m - 1m - - Johan den Dunnen 00302601
0000229683 severe, bedridden; EEG 2-3.5 Hz slow wave; MRI brain normal aromatic L-amino acid decarboxylase deficiency AADCD Familial, autosomal recessive 15m - 4m - - Johan den Dunnen 00302602
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